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Clinical Finding Defining Attributes

Self-grouped Attributes

Generally, the attributes associated with , before , during , after , due to , clinical course , or temporally related to are self-grouped, meaning they must not be placed in a relationship group with other attributes; each attribute must be the only attribute in a relationship group. Any rare exceptions will be documented within the individual attribute section below.

The grouped column from the Clinical Finding Attributes Summary table on the previous page correctly indicates that these attributes are put into a relationship group during classification because they are self-grouped.

The following defining attributes correspond to the Clinical Finding/Disorder Attributes Summary table.

After

This attribute is used to model concepts in which a clinical finding occurs after another clinical finding, procedure or event. Neither asserting nor excluding a causal relationship, it instead emphasizes a sequence of events. This attribute is self-grouped.

For example,

123948009 |Post-viral disorder (disorder)| occurs | After (attribute)| 34014006 | Viral disease (disorder)|

A clinical finding may start either: after a variable period of time; immediately following the resolution of its antecedent; or during the course of its antecedent but continue after the antecedent has resolved. These sequences correspond to Allen's interval algebra relations of:

X takes place before Y
X meets Y
X overlaps with Y

This attribute specifies the morphologic changes seen at the tissue or cellular level that are characteristic of a disease.

(Please see Morphologic Abnormalities vs. Findings for details).

For example,

75694006 | Pancreatitis (disorder)| has an Associated morphology (attribute) of 409774005 |Inflammatory morphology (morphologic abnormality)|

When selecting a value for this attribute, in general, the concept should not represent a body structure combined with the morphology. There are, however, exceptions, i.e. where a morphology implies the finding site:

For example,

Thymoma (morphologic abnormality)
External hyperostosis (morphologic abnormality)
Odontoma (morphologic abnormality)

Body structure should be captured in the value selected for the Finding site attribute. There are, however, exceptions.

For example,

70529004 | Lymphoid hyperplasia of appendix (disorder)| has | Associated morphology (attribute)| of 43961000 | Lymphoid hyperplasia (morphologic abnormality)| and a | Finding site (attribute)| of 45679000 | Appendiceal lymphoid nodule (body structure)|

47429007 | Associated with (attribute)| represents a clinically relevant association between concepts without either asserting or excluding a causal or sequential relationship between the two. In general, avoid using the 47429007 | Associated with (attribute)| as it may be ambiguous and difficult to apply consistently.

This attribute is self-grouped.

Areas of content that use this attribute:

Devices
Intolerance to substances
Concepts that group specific associations

For example,

6211002 | Polyarthritis associated with another disorder (disorder)|

This attribute is used to model pre-procedure complications (e.g., preoperative complication). It represents temporal associations between procedures and related disorders. This attribute is self-grouped.

This attribute identifies an organism, substance, physical object, physical force, and/or pharmaceutical/biological product as the direct cause of a condition. It does not include vectors, for example, a mosquito that transmits malaria.

For example,

4989003 |Electrical burn of skin (disorder)| has the 246075003 |Causative agent (attribute)| of 18213006 |Electricity (physical force)|

The following guidelines should be considered where the causative agent is a substance:

Concepts representing a clinical finding caused by a base substance (e.g., 836284001 |Pentamethonium (substance)|), a substance structure grouper (e.g. 1149501006 |Substance with ether structure (substance)|), or a substance disposition grouper (e.g. 404642006 |Substance with opioid receptor agonist mechanism of action (substance)|) should be modeled using a causative agent that is a descendant of 105590001 |Substance (substance)|. Classification results are expected to be consistent with the modeling in the Substance hierarchy.

For example,

93419003 |Contact dermatitis caused by nickel (disorder)|
13503000 |Poisoning caused by naloxone (disorder)|
767116002 |Allergy to substance with ether structure (finding)|
870376001 |Adverse reaction to dopamine receptor agonist (disorder)|

Concepts representing a clinical finding caused by a substance modification (e.g., 82485006 |Pentamethonium bromide (substance)|) are generally not allowed. Exceptions may be included if the condition caused by the substance modification is significantly different from the one caused by the base substance. Exceptions may include liposome or lipid complex substances, pegylated substances, or salt forms:

For example,

293908005 |Allergy to chloral hydrate (finding)|
296213007 |Fluphenazine decanoate overdose (disorder)|

This attribute is used to represent both the course and onset of a disease or condition. This attribute is self-grouped.

For example,

74973004 |Chronic fibrosing pancreatitis (disorder)| has a 263502005 |Clinical course (attribute)| of 90734009 |Chronic (qualifier value)|

The clinical course value is added when appropriate to the condition and thus specified in the FSN. The distinction is often necessary in those conditions that can have either an acute or a chronic course, such as bronchitis. For those conditions that have only one clinical course, i.e. diabetes is a chronic disease, a wider discussion is necessary before a decision can be made whether to assign a clinical course. Decisions on these concepts are currently made on a case-by-case basis.

Many conditions with acute (sudden) onsets also have acute (short-term) courses. Few conditions with chronic (long-term) durations require rapid versus gradual onset subtyping. Thus, there is no clear need for separating the rapidity of onset from the duration of a disease. The clinical course attribute, which combines onset and course, has been more reproducible and useful than two attributes that attempt to separate the meanings.

This attribute is used to identify a clinical finding/disorder, event, or procedure concept as the direct cause of another Clinical finding or Disorder concept. If the clinical finding merely predisposes to another disorder, rather than causing it directly, the more general |Associated with (attribute)| is used instead.

This attribute is self-grouped.

For example,

43959009 |Cataract of eye due to diabetes mellitus (disorder)|

This attribute is used to model concepts in which a clinical finding occurs during a procedure. Neither asserting nor excluding a causal relationship, it instead emphasizes a sequence of events. This attribute is self-grouped.

For example,

10901000087102 |Hypotension during surgery (disorder)| has the value Surgical procedure (procedure) for During (attribute)

This attribute is used to represent episodes of care provided by a physician or other healthcare provider, not episodes of disease experienced by the patient.

For example,

Asthma with 246456000 |Episodicity (attribute)| of 255217005 |First episode (qualifier value)| represents the first time the patient presents to their healthcare provider with asthma.

This attribute specifies the person or other entity from which the clinical finding information was obtained. It is not about the particular individual but about the category or type of informer. It is used to differentiate patient-reported symptoms from provider-determined signs.

This attribute specifies the means by which a clinical finding was determined. It includes findings that were determined by examination of the patient.

For example,

713071004 |Alcohol misuser in household (finding)| has the 418775008 |Finding method (attribute)| of 84100007 |History taking (procedure)|

This attribute specifies the body site affected by a condition.

For example,

90708001 |Kidney disease (disorder)| has 363698007 |Finding site (attribute)| of 64033007 |Kidney structure (body structure)|

This attribute represents a recognized association between a disorder (or clinical finding) and a gene, where the gene is implicated in the condition but is not itself the anatomical site of the abnormality. This relationship does not assert a specific causal mechanism and may represent causative, susceptibility, modifying, or otherwise biologically relevant involvement.

This attribute represents a pathological physiological state in which a substance or cell type is present in insufficient quantity or activity in the subject.

This attribute represents a pathological physiological state in which a substance or cell type is present in excessive quantity or activity in the subject.

This attribute refers to and designates the judgment aspect being evaluated or interpreted (e.g., presence, absence, degree, normality, abnormality, etc.). Subtypes of Environment or geographical location (environment / location) can also be used as the value in cases such as specifying a location of an incident to be reported to death and injury registries.

Interprets and Has Interpretation are grouped together in a relationship group without any other attributes.

For example,

Qualifier values of |Below reference range| and |Above reference range| are preferred over values such as high/low, increased/decreased, etc. to describe Measurement finding (finding) concepts.

This attribute refers to the entity being evaluated or interpreted, when an evaluation, interpretation, or judgment is intrinsic to the meaning of a concept.

Interprets and Has Interpretation are grouped together in a relationship group without any other attributes. Interprets may be used in a relationship group by itself without any other attributes if the value of the observable is not defined.

For example,

When working with the Interprets attribute, consider the values used by the supertypes and possible subtypes of your concept for this attribute. This is because the |Interprets| values must be drawn from the same hierarchy, e.g., |Observable entity| hierarchy or |Procedure| hierarchy as supertypes and subtypes, to support modeling and correct subsumption.

This attribute is used to specify the process or activity that is the consequence of realization of the function.

This attribute refers to the specific period of life during which a condition first presents. However, conditions may persist beyond the period of life when they first present.

For example,

192611004 |Childhood phobic anxiety disorder (disorder)| has the [246454002 |Occurrence (attribute)| of 255398004 |Childhood (qualifier value)|

This attribute provides information about the underlying pathological process of a disorder, i.e. it describes the process that results in the structural or morphologic change.

For example,
- 17322007 |Disease caused by parasite (disorder)| has the 370135005 |Pathological process (attribute)| of 442614005 |Parasitic process (qualifier value)|

370135005 |Pathological process (attribute)| must not be used for values that could overlap with 116676008 |Associated morphology (attribute)|.

For example,
- Inflammatory processes result in inflammation (by definition), but these disorders should be defined by their morphology, i.e., 708039003 |Inflammatory lesion (morphologic abnormality)|

Disorders which involve congenital anomalies are defined with the following grouped attribute-value pairs:

Occurrence (attribute) = congenital (qualifier value)
Associated morphology (attribute) = << 49755003 |Morphologically abnormal structure (morphologic abnormality)|
Pathological process (attribute) = pathological development process (qualifier value)
Finding site = X (body structure)

This attribute is used to subclass a Clinical finding concept according to its severity. However, this use is relative , i.e. it is incorrect to assume that the disease intensity or hazard is the same for all clinical findings to which this attribute is applied.

The 246112005 |Severity (attribute)| may be applied to subtypes of Clinical finding (excluding << Symptom severity (finding)) to represent the severity of a finding or disease.

While this attribute is useful to create subtypes of specific concepts and to differentiate the severity of a single disorder, it is not commonly used, and care must be taken when applying it. This is because:

Severity may be interpreted in different ways, depending on the set of values available. Consider the different meaning of severity in each of the following value sets:
- mild / moderate / severe
- minimal / mild / moderate / severe / very severe
- mild / mild to moderate / moderate / moderate to severe / severe / life threatening / fatal

The Severity attribute is not applied to subtypes of 162465004 |Symptom severity (finding)| because the severity of a symptom is different to the severity of a disease. Please note this piece of guidance does not align with the MRCM but is an editorial guideline.

726633004 |Temporally related to (attribute)| applies to perioperative complications and clinical findings where there is no causal relationship but a time-relative association exists.

This attribute's subhierarchy specifies the associated time period (i.e. before, during, after) between two clinical findings, e.g., |Pediatric inflammatory multisystem syndrome temporally associated with COVID-19|; or between a clinical finding and a procedure, e.g., perioperative complications temporally related to a surgical procedure (i.e. preoperative, intraoperative, and postoperative).

This attribute is self-grouped.

Clinical Finding and Disorder Naming Conventions

FSN

A Clinical finding/Disorder concept's fully specified name (FSN) must be specific, though the preferred term (PT) can be a more clinician-friendly, word-order variant.

FSN Pattern

The FSN must conform to a specific pattern of "Disease of x" where a specific body structure is involved. For the preferred term, end users can choose the desired description that conforms to common clinical usage.

For example,

FSN: Disease of kidney (disorder)
PT: Can be either 'Kidney disease' or 'Renal disease'

Use of -opathy

The use of -opathy is to be used in the preferred term, because the FSN is to be specific and explicit, and there are often various interpretations of -opathy. A term containing the suffix -opathy can only be used in the FSN if a definition is applied via the DEF description.

For example,

FSN: Disorder of macula of retina (disorder)
PT: Can be either 'Disorder of macula of retina' or 'Maculopathy'

The morphologic abnormality is named before naming the anatomical site.

For example,

In 399525009 | Inflammation of ampulla of Vater (disorder)|, Inflammation is the morphologic abnormality and Ampulla of Vater is the finding site.

Descriptions for Clinical findings and Disorders should follow the naming guidelines for Body structures if they are to be used within the Clinical finding/disorder concept.

Concepts describing limbs are abundant, and the use of limb in the FSN and the synonyms of upper/lower extremity, arm/leg should be followed.

For example,
- 249945007 |Monoparesis of lower limb (disorder)|

Because the finding site is 61685007 |Lower limb structure (body structure)|, which follows the anatomical guidelines, the disorder concept reflects lower limb in the FSN, while using synonyms of Monoparesis of leg and Monoparesis of lower extremity.

The term cerebral is used in clinical language to mean both cerebrum , and more broadly, brain.

If the condition is limited to the cerebrum, the FSN, PT, and finding site will reflect the cerebrum. A synonym will remain with the term cerebral.
If the condition refers more broadly to the brain, the FSN, PT, and finding site will reflect the brain – unless the proper name of the condition uses the term cerebral , as in Cerebral palsy. A synonym will remain with the term cerebral if it is commonly used to refer to the condition.

The word disorder should be singular, so Disorder of nose , not Disorders of nose.

When the concept is a general grouping of disorders of a body system, body site, or other broad category, the word disorder is preferred over the word disease for the FSN, e.g. Disorder of reproductive system , not Disease of reproductive system. This does not apply at the leaf level.
For example,
- 417683006 | Sickle cell-hemoglobin C disease without crisis (disorder)|

For naming conventions concerning surgical complications, sequelae, and late effects; see this section at .

The vast majority of existing X without Y concepts originated from ICD-9 with the specific meaning of "X disorder without mention of Y disorder". As the phraseology indicates a lack of data about disorder Y as opposed to a specific exclusion, this type of concept has not been included in ICD-10, nor proposed for ICD-11, except in the case of "Traumatic brain injury without open intracranial wound".

Addition of new X without Y concepts may only be made under the following conditions:

The request for new content must be accompanied by a rationale as to the difference between "X disorder without Y disorder" and "X disorder"
Approval of addition by the Chief Terminologist

For the most part, existing X without Y concepts will be inactivated as AMBIGUOUS with a historical MAY BE relationship to "X disorder". Exceptions to inactivation will be made on a case-by-case basis.

SNOMED international is no longer accepting new requests for concepts of the type – Requires [procedure/drug] (finding). These are administrative statuses rather than clinical findings, and this status should be represented outside of the terminology in the information model. The only exceptions relate to legacy content, and requests for subtypes of 723620004 |Requires vaccination (finding)| will continue to be accepted.

If the 363698007 | Finding site (attribute)| value of a concept is a body structure with "region" in its FSN, then the description of the finding site within the clinical finding concept's FSN should also include "region".

For example,
274205003 | Burn of eye region (disorder)| has a finding site of 371398005 | Eye region structure (body structure)|.
- FSN: Burn of eye region (disorder)
- PT: Burn of eye region

Previously, allergies caused by multiple substances were modeled by multiple causative agents suggesting that the allergy is caused by all those substances. However, when multiple substances are noted in the FSN, the intended clinical meaning is that a patient might be affected by one or more of these substances (or products containing them). To convey this meaning, these types of concepts should be modeled GCIs to represent the disjunctive meaning. e.g. 870731003 |Allergy to carbidopa and/or levodopa (finding)|

Allergic and nonallergic hypersensitivity (pseudoallergic) dispositions are the propensity to develop adverse allergic or nonallergic hypersensitivity (pseudoallergic) disorders. A description for any concept that names a substance or an organism should be consistent with the corresponding hierarchy description rules.

FSN: Allergy to X (finding)
PT: Allergy to X

For example,

FSN: Allergy to abacavir (finding)
PT: Allergy to abacavir
FSN: Allergy to Artemisia vulgaris pollen (finding)
PT: Allergy to mugwort pollen

FSN: Allergy to X and Y (finding)

PT: Allergy to X and Y

X and Y in alphabetical order for concepts representing multiple substances

These disorders represent manifestations of pathologic processes that may result in abnormal structures (e.g., allergic rhinitis).

Disorder

Patterns and examples

These disorders represent pathological processes that are defined as adverse reactions and allergic conditions with a pathological process of allergic or nonallergic hypersensitivity (pseudoallergic) process.

Reaction

Patterns and examples

Contact hypersensitivity represents a response elicited by contact of the skin or mucous membranes with a substance. The response may be immune mediated (allergic) or nonimmune (irritant) using the pathological process contact hypersensitivity process (qualifier value).

For example,
- Contact dermatitis (disorder)
- Irritant contact dermatitis (disorder)

An intolerance is the propensity to develop an adverse reaction to a substance. The nature of the adverse reaction can represent a variety of pathological processes but specifically excludes hypersensitivity (allergic and nonallergic hypersensitivity (pseudoallergic) reactions.

Due to the difficulty in precisely defining an intolerance pathological process, it is problematic to apply the model for hypersensitivity dispositions to defining intolerance to substance. For this reason, as well as the difficulty in associating a material agent with a disposition, substances are related to the intolerance disposition with the associated with attribute.

Intolerance

Patterns and examples

Identification of findings of inadequate or excessive intake of nutrients inconsistent with nutrient requirements and established reference standards includes nutrients with a variety of forms where applicable.

For example,

870465001 | Excessive intake of vitamin A and vitamin A derivative (finding)|

FSN: Excessive intake of vitamin A and vitamin A derivative (finding)

PT: Excessive intake of vitamin A and vitamin A derivative

Lateralized Disorder Naming Conventions

For more information

See also Anatomical Structure Naming Conventions section and Laterality section

Right, left disorder concepts

When creating a lateralized disorder concept, two concepts should be created:

concept for the left side
concept for the right side

Descriptions

FSN: <morphologic abnormality> of <right/left> <body structure> (disorder)
PT: Right/left
- For example, 1089071000119109 |Inflammation of left mastoid (disorder)|
  - FSN: Inflammation of left mastoid (disorder)
  - PT: Left mastoiditis

When creating a lateralized disorder concept, if a non-lateralized parent does not exist, then it should be created as well. In other words, do not just create the right and left versions, but also create a concept to represent the laterality-agnostic parent.

For example,
- When creating Inflammation of left mastoid and Inflammation of right mastoid, also ensure a concept for Inflammation of mastoid exists.

Where the disorder is left/right of a specific anatomical site, and the preferred term naming pattern of Right/left causes a combination that does not sound like natural flowing English, the guidance above can be circumvented. See the section and Laterality section .

For example,
- Left interphalangeal thumb joint open traumatic dislocation should follow naming guidance of Open traumatic dislocation of interphalangeal joint of left thumb.
- Left abscess of foot is an incorrect term; instead, this should read Abscess of left foot.

Where the bilateral disorder description causes a combination that does not sound like natural flowing English, the guidance below can be circumvented.

FSN: of bilateral (disorder)
PT: Bilateral
SYN: of bilateral
SYN: of both

FSN: of bilateral (disorder)
PT: of bilateral
SYN: of both

Note the PT of Bilateral is not required. Bilateral is to describe the body site, not the morphologic abnormality.

For example, 15725081000119100 | Effusion of joint of bilateral feet (disorder) |
- FSN: Effusion of joint of bilateral feet (disorder)
- PT: Effusion of joint of bilateral feet
- SYN: Effusion of joint of both feet

Also note that joint is singular. This is to denote that the joint may be singular on each side of the body; the plurality of feet will represent the laterality. Using joints as plural may incorrectly reflect that there are multiple joints affected in both feet.

Bilateral disorders should be modeled using two relationship groups, one for each lateralized body structure.

Specific Clinical finding and Disorder Modeling

Acquired abnormality of congenital anomaly
Adverse reaction to X vaccine
Allergy to X vaccine
Arrythmia

Acquired abnormality of congenital anomaly

For those concepts that describe a congenital anomaly that has been repaired and subsequently acquired an abnormality, follow the naming convention of |Acquired abnormality of X following repair of congenital X (disorder)|.

For example,
- 871598001 |Acquired abnormality of common arterial trunk following repair of truncus arteriosus (disorder)|

Arrhythmia

Cardiologists noted confusion in the placement of Conduction disorder of the heart (disorder) as a broad grouping that subsumed arrhythmias and heart blocks. In common usage arrhythmia refers to a broad set of conditions that include conduction disorders, under which are heart blocks. The concept Cardiac arrhythmia (disorder) is a parent of Conduction disorder of the heart (disorder), and the active referent of the inactive concepts named dysrhythmia or arrhythmia.

For example,

Arrhythmias, like 72654001 |Supraventricular arrhythmia (disorder)|, are under 698247007 |Cardiac arrhythmia (disorder)|

Conduction disorders include heart block, AV block, bundle branch block, conduction delay, and conduction defect, like 418341009 | Atrioventricular conduction disorder (disorder) |. Other arrhythmias were moved from under 44808001 |Conduction disorder of the heart (disorder)| and placed under 698247007 |Cardiac arrhythmia (disorder)|.

Bacterial disorders with organism or toxin

In modeling some bacterial disorders, there will be situations where either the organism or the toxin (substance), or both values, are required for the causative agent attribute. The decision is often determined by whether or not the bacteria are considered endotoxins or exotoxins. The most common exotoxins are:

Botulinum Toxin
- Enterotoxin
- Cholera Toxin
- Diphtheria Toxin
- Tetanospasmin

Exotoxins are more lethal in comparison to endotoxins, but there are vaccines against many exotoxins whereas there are no vaccines against endotoxins. There can be instances where an infection is present but the disease-causing toxins are not; in this case, model the concept only with the organism and not the toxin substance.

Example,

276202003 |Infection caused by Clostridium tetani (disorder)| is modeled with a causative agent of 30917009 |Clostridium tetani (organism)| only.

In the situation where a disease is caused by both the infection and the associated toxin, model with both the causative agent and the toxin substance.

Example,

76902006 |Tetanus (disorder)| is modeled with a causative agent of 30917009 |Clostridium tetani (organism)| as well as 26159005 |Clostridium tetani toxin (substance)|.

Combining Morphologic Abnormalities

When modeling a concept requiring two role groups with the same body structure but two different morphologies (because a combined morphology does not exist), then those morphologic abnormalities can be combined to create a single morphologic abnormality concept. Keep the newly-created morphologic abnormality concept primitive, as all morphologic abnormality concepts are primitive.

For example

Disorder concept

Associated morphology

Combined Associated morphology

Another example is 1076491000119102 |Nontraumatic complete rupture of muscle or tendon structure of rotator cuff of left shoulder (disorder)|.

If this disorder had the same finding site of |Structure of rotator cuff of left shoulder (body structure)| with two different morphologic abnormalities of |Nontraumatic rupture| and |Complete rupture|, then those two morphologic abnormality concepts can be combined to create a single, primitive, morphologic abnormality concept of |Nontraumatic complete rupture (morphologic abnormality)|. This will prevent modeling with two relationship groups.

Instead of modeling as in this stated view:

Model as shown in this stated view:

Death

Death is an event, not a disorder.

Sudden cardiac death is a term used in clinical practice. It refers to an arrhythmia that results in sudden loss of cardiac function which, if not quickly reversed, will lead to actual death. The FSN Sudden cardiac death (disorder) is modeled as a subtype of 127337006 |Acute heart disease (disorder)|. It should not be classified as death. Individuals with sudden cardiac death have not necessarily been declared dead and are frequently revived. It is regarded as a subtype of cardiac dysrhythmia.

Genetic, developmental, congenital, and physical origin

The following figure shows the structure of genetic, developmental, and congenital categories, along with non-genetic, non-developmental, and postnatal categories. A dimension, called extrinsic physical force , is included to distinguish deformations from malformations. The sections of the diagram represent categories formed from the combination of the dimensions, each which represents the answer to one of the following questions:

Is it genetic or not?
Is it developmental or not?
Is it present at birth or not?
Is it due to an extrinsic physical force or not?

Explanation of Figure

The sections with diagonal hashed lines represent combination categories that do not occur.

For example, there are no genetic disorders that are due to an extrinsic physical force. Likewise, there are no congenital disorders that are considered non-developmental.

The sections with blue crossing lines represent congenital malformations; they may be either genetic or non-genetic.

For example, congenital infectious malformations

The red circle represents congenital genetic malformations.

The blue sections represent acquired , i.e. disorders that are non-genetic and not present at birth.

For example, Vitamin D deficiency (rickets) in children is a non-genetic, non-congenital, developmental malformation.

The white sections represent genetic congenital or genetic postnatal disorders.

For example, Huntington's disease is a genetic disease that is neither congenital nor developmental. The gene defect is present at birth, but the disease does not manifest until adulthood.

Arrows leading from the sections point to examples of disorders for the category.

Developmental is a useful label for disorders that affect developing structures or functions that may occur pre- or postnatally. They may be present at birth or develop later.

The term familial may also be ambiguous when used for broad categories. It may mean that the disorder is found in higher proportions in the immediate or extended family compared to other groups. Or, it may mean there is a possibility of a disease being inherited. It may be used; however, it may require clarification of meaning from the requestor. It should not be used as a synonym for genetic.

It may be a challenge to classify a condition as a 32895009 |Hereditary disease (disorder)|. H ereditary requires case-by-case definition; it cannot be applied to broad categories. Nevertheless, the names by which many diseases are known include the term, and it is permitted, as long as it does not introduce ambiguity.

Co-occuring Genomic Disorders

Germline chromosomal abnormality co-occurring and causing disorder: 41040004 | Complete trisomy 21 syndrome (disorder)|

If the phenotype is always caused by a specific genotype, there is no need to include the cause in the FSN or clarify with a Due to relationship.

Germline nucleotide sequence variant co-occurring and causing disorder: 190905008 | Cystic fibrosis (disorder)|

Modeling for germline mutations causing conditions, such as cystic fibrosis, should have mutations, Occurrence = congenital, and Due to (attribute) the mutation finding.

For example,

Cystic fibrosis due to G542X mutation

Somatic NSV (NCBI structural variant) co-occurring and poly-etiologic : BRAF V600E positive melanoma

Somatic mutations leading to cancer, such as malignant melanoma with BRAF V600E mutation , should have dual supertypes , including the malignant disorder and the somatic mutation, and Due to (attribute) with the associated somatic mutation finding.

For example,

Melanoma with BRAF V600E mutation

Representing two associated findings in a single concept may be convenient for recording; however, the representation of the two notions should be recorded separately.

For example,

Breast cancer occurring with positive estrogen-receptor assay should be recorded in the information model as two separate concepts

Infectious vs. inflammatory

Disorders with the suffix "-itis" (e.g., cystitis, prostatitis, tonsillitis, appendicitis) are often infectious as well as inflammatory in nature.

For inflammatory conditions whose FSNs specify an infective cause , the modeling should include:

|Causative agent (attribute)| with the specified organism
|Pathological process (attribute)| with the type of infectious process
|Associated morphology (attribute)| with Inflammatory morphology or subtype
|Finding site (attribute)| with a body structure when known

For inflammatory conditions whose FSNs do not specify an infective cause, an infectious cause should neither be assumed nor modeled when the FSN does not specify it. The modeling would then exclude a Causative agent and Pathological process and should include only:

|Associated morphology (attribute)| of Inflammatory morphology or subtype
|Finding site (attribute)| with a body structure when known

Example of inflammatory and infectious disorder,

Example of inflammatory disorder not specified as infectious,

446292002 |Necrotizing inflammation of lymph node (disorder)| (synonym, Necrotizing lymphadenitis) does not specify an infective cause, so it is neither modeled with Causative agent nor Pathological process. The model contains an |Associated morphology (attribute)| and a |Finding site (attribute)|.

Ischemia

Ischemic disorders are defined by a morphology of ischemic structural change. This need not be permanent, but it is assumed that all ischemia results in some structural alterations at the molecular level.

Ischemic heart disease includes myocardial infarction, myocardial ischemia (without infarction), angina, and other disorders of the heart that have ischemic structural change (reversible or non-reversible) as a defining characteristic.

Coronary arteriosclerosis can, of course, be present without causing ischemia, so coronary arteriosclerosis is not a subtype of ischemic heart disease.

Likewise, there are causes of myocardial ischemia and infarction other than coronary arteriosclerosis, so ischemic heart disease is not a subtype of coronary arteriosclerosis.

Malformation, deformation, anomaly

The word anomaly is, by itself, ambiguous as it may mean either a structural or functional abnormality, depending on the body structure to which it is applied. Concepts using the term anomaly must be evaluated to determine whether it represents a structural or functional abnormality. Using the term "anomaly" in new concept FSNs is not allowed. The terms "structural abnormality" should be used when it is unclear whether the morphology results from malformation or deformation.

A deformity is a structural abnormality that is due to an extrinsic physical force. Newly created concepts representing a deformity should be considered disorders.

A malformation is a structural abnormality that results from intrinsically disordered development.

For example,
- Congenital anomaly of is currently modeled as a structural abnormality but is not the same as C ongenital malformation (structural abnormality due to intrinsically disordered development present at birth). Therefore, it can be regarded as having the more general meaning of structural abnormality present at birth.

When referring to a broad term to denote an intrinsic structural abnormality (e.g., Structural abnormality of fetal bladder) and plan to include 49755003 |Morphologically abnormal structure (morphologic abnormality)| in the model, use the pattern Malformation of fetal X or Congenital malformation of X.

Mental health

Dependence-related concepts which express the current existence of abuse are acceptable.

For example,
- 191816009 |Drug dependence (disorder)|

Dependence-related concepts which express the pattern as either continuous or episodic are not acceptable.

Unacceptable patterns:

X with single episode
X with multiple episodes
Current episode of X
First episode of X
X with continuous pattern

Unacceptable legacy concepts:

Drug abuse, continuous (disorder)
Episodic drug abuse (disorder)

Concepts describing full or partial remission are acceptable but not the phase of the remission.

Acceptable patterns:

X in full remission
X in partial remission
- For example,
  - 46244001 |Recurrent major depression in full remission (disorder)|

Unacceptable patterns:

X in early full remission
X in sustained full remission
X in sustained partial remission

Conditions with associated symptoms should be expressed and modeled like combined disorders. Due to situations are acceptable but not simple Co-occurrent.

For example,
- 703850002 |Delirium due to benzodiazepine withdrawal (disorder)|

Concepts containing X without Y are considered on a case-by-case basis.

Acceptable example:

724735003 |Oppositional defiant disorder without chronic irritability-anger (disorder)|

Unacceptable example:

Bipolar type II disorder with current episode moderately depressive without psychotic symptoms

See also relative page:

Neoplasm

The word tumor has two primary meanings: a mass, regardless of whether it is neoplastic or not; or a neoplastic mass. The term neoplasm is preferred since it is less ambiguous than tumor. The word tumor is acceptable as a synonym but not as a preferred term.

For example,

92385005 |Benign neoplasm of small intestine (disorder)|

Previously in SNOMED CT, the hierarchy of 372087000 |Primary malignant neoplasm (disorder)| was defined by using an Associated morphology (attribute) relationship to <<86049000 |Malignant neoplasm, primary (morphologic abnormality)|. 86049000 |Malignant neoplasm, primary (morphologic abnormality)| and 367651003 |Malignant neoplasm of primary, secondary, or uncertain origin (morphologic abnormality)| have been inactivated in the November 2022 release and replaced with 1240414004 |Malignant neoplasm (morphologic abnormality)|.

Primary malignant neoplasm disorders are now defined with a role group combining:

Obstruction

Since an obstruction describes blockage inside the space of a tubular structure, the Finding site of obstruction concepts should be a value from the 113342003 |Structure of lumen of body system (body structure)| subhierarchy.

For example,

When modeling gastrointestinal tract obstruction concepts, the Finding site value should be a value from the 432899004 |Structure of lumen of gastrointestinal tract (body structure)| hierarchy as the site obstructed is the lumen of the tract.

Overdose

708079007 |Overdose of illicit drug (disorder)| is modeled without a Causative agent because the term "illicit drug" may have differing local interpretations.

Vaccine-related overdose concepts in the Clinical Finding/Disorder hierarchy were inactivated in the January 2020 Release. They were replaced with concepts in the Event hierarchy, see 788094008 |Excessive dose of vaccine administered (event)| and subtypes.

When authoring, determine whether the concept describes an overdose, which is a disorder , or the administration or ingestion of an excessive dose, which is an event.

Pulmonary embolism

Pulmonary embolus (PE) refers to obstruction of the pulmonary artery or one of its branches by material (e.g. thrombus, tumor, air, or fat) that originated elsewhere in the body. When modeling embolism disorder concepts with pulmonary in the FSN, the Finding site is 782966009 |Structure of artery of pulmonary circulation (body structure)|.

Remission

Disorder in remission

< X> disorder in remission concepts require a stated relationship to the appropriate primitive Disorder in remission supertype, in addition to the appropriate supertype for the disorder.

For example,

16270831000119107 |Bulimia nervosa in partial remission (disorder)| has stated parents of 698698008 |Bulimia nervosa in remission (disorder)| and 765207007 |Disorder in partial remission (disorder)|.

Where the primitive supertype for the disorder is |Disease (disorder)|, only the Disorder in remission supertype will be required.

For example,

Rheumatoid arthritis

Rheumatoid arthritis (RA) is a multisystem, inflammatory, autoimmune disorder; the exact etiology is unknown. RA is a disease primarily of the joints and is clinically known as an 'arthritis' although extra-articular manifestations occur. Extra-articular features include nodules, carditis and pericarditis, vasculitis, lung disorders, and other manifestations.

69896004 |Rheumatoid arthritis (disorder)| remains a primitive concept in SNOMED CT and must be stated as a parent (IS A relationship) for all rheumatoid arthritis concepts.

For example,

201776007 |Rheumatoid arthritis of sacroiliac joint (disorder)|

Example of extra-articular rheumatoid manifestation,

28880005 |Rheumatoid arthritis with carditis (disorder)|

410795001 |Juvenile rheumatoid arthritis (disorder)| has been inactivated with an inactivation reason of Outdated with a target replacement of 410502007 |Juvenile idiopathic arthritis (disorder)|. Subtypes of Juvenile idiopathic arthritis (disorder) are now modeled to reflect the up-to-date classification of this disorder.

Substance withdrawal syndrome

For example,

74934004 |Psychoactive substance withdrawal syndrome (disorder) has a stated proximal primitive parent of Disease (disorder) and Due to and After attributes of Psychoactive substance dependence (disorder).

Stated view of 74934004 |Psychoactive substance withdrawal syndrome (disorder)|:

Inferred view of 74934004 |Psychoactive substance withdrawal syndrome (disorder)|:

Clinical Finding Defining Attributes

Self-grouped Attributes

The following defining attributes correspond to the Clinical Finding/Disorder Attributes Summary table.

After

For example,

123948009 |Post-viral disorder (disorder)| occurs | After (attribute)| 34014006 | Viral disease (disorder)|

X takes place before Y
X meets Y
X overlaps with Y

This attribute specifies the morphologic changes seen at the tissue or cellular level that are characteristic of a disease.

(Please see Morphologic Abnormalities vs. Findings for details).

For example,

75694006 | Pancreatitis (disorder)| has an Associated morphology (attribute) of 409774005 |Inflammatory morphology (morphologic abnormality)|

For example,

Thymoma (morphologic abnormality)
External hyperostosis (morphologic abnormality)
Odontoma (morphologic abnormality)

Body structure should be captured in the value selected for the Finding site attribute. There are, however, exceptions.

For example,

70529004 | Lymphoid hyperplasia of appendix (disorder)| has | Associated morphology (attribute)| of 43961000 | Lymphoid hyperplasia (morphologic abnormality)| and a | Finding site (attribute)| of 45679000 | Appendiceal lymphoid nodule (body structure)|

This attribute is self-grouped.

Areas of content that use this attribute:

Devices
Intolerance to substances
Concepts that group specific associations

For example,

6211002 | Polyarthritis associated with another disorder (disorder)|

For example,

4989003 |Electrical burn of skin (disorder)| has the 246075003 |Causative agent (attribute)| of 18213006 |Electricity (physical force)|

The following guidelines should be considered where the causative agent is a substance:

For example,

93419003 |Contact dermatitis caused by nickel (disorder)|
13503000 |Poisoning caused by naloxone (disorder)|
767116002 |Allergy to substance with ether structure (finding)|
870376001 |Adverse reaction to dopamine receptor agonist (disorder)|

For example,

293908005 |Allergy to chloral hydrate (finding)|
296213007 |Fluphenazine decanoate overdose (disorder)|

This attribute is used to represent both the course and onset of a disease or condition. This attribute is self-grouped.

For example,

74973004 |Chronic fibrosing pancreatitis (disorder)| has a 263502005 |Clinical course (attribute)| of 90734009 |Chronic (qualifier value)|

This attribute is self-grouped.

For example,

43959009 |Cataract of eye due to diabetes mellitus (disorder)|

For example,

10901000087102 |Hypotension during surgery (disorder)| has the value Surgical procedure (procedure) for During (attribute)

This attribute is used to represent episodes of care provided by a physician or other healthcare provider, not episodes of disease experienced by the patient.

For example,

Asthma with 246456000 |Episodicity (attribute)| of 255217005 |First episode (qualifier value)| represents the first time the patient presents to their healthcare provider with asthma.

This attribute specifies the means by which a clinical finding was determined. It includes findings that were determined by examination of the patient.

For example,

713071004 |Alcohol misuser in household (finding)| has the 418775008 |Finding method (attribute)| of 84100007 |History taking (procedure)|

This attribute specifies the body site affected by a condition.

For example,

90708001 |Kidney disease (disorder)| has 363698007 |Finding site (attribute)| of 64033007 |Kidney structure (body structure)|

This attribute represents a pathological physiological state in which a substance or cell type is present in insufficient quantity or activity in the subject.

This attribute represents a pathological physiological state in which a substance or cell type is present in excessive quantity or activity in the subject.

Interprets and Has Interpretation are grouped together in a relationship group without any other attributes.

For example,

Qualifier values of |Below reference range| and |Above reference range| are preferred over values such as high/low, increased/decreased, etc. to describe Measurement finding (finding) concepts.

This attribute refers to the entity being evaluated or interpreted, when an evaluation, interpretation, or judgment is intrinsic to the meaning of a concept.

For example,

This attribute is used to specify the process or activity that is the consequence of realization of the function.

This attribute refers to the specific period of life during which a condition first presents. However, conditions may persist beyond the period of life when they first present.

For example,

192611004 |Childhood phobic anxiety disorder (disorder)| has the [246454002 |Occurrence (attribute)| of 255398004 |Childhood (qualifier value)|

This attribute provides information about the underlying pathological process of a disorder, i.e. it describes the process that results in the structural or morphologic change.

For example,
- 17322007 |Disease caused by parasite (disorder)| has the 370135005 |Pathological process (attribute)| of 442614005 |Parasitic process (qualifier value)|

370135005 |Pathological process (attribute)| must not be used for values that could overlap with 116676008 |Associated morphology (attribute)|.

For example,
- Inflammatory processes result in inflammation (by definition), but these disorders should be defined by their morphology, i.e., 708039003 |Inflammatory lesion (morphologic abnormality)|

Disorders which involve congenital anomalies are defined with the following grouped attribute-value pairs:

Occurrence (attribute) = congenital (qualifier value)
Associated morphology (attribute) = << 49755003 |Morphologically abnormal structure (morphologic abnormality)|
Pathological process (attribute) = pathological development process (qualifier value)
Finding site = X (body structure)

The 246112005 |Severity (attribute)| may be applied to subtypes of Clinical finding (excluding << Symptom severity (finding)) to represent the severity of a finding or disease.

Severity may be interpreted in different ways, depending on the set of values available. Consider the different meaning of severity in each of the following value sets:
- mild / moderate / severe
- minimal / mild / moderate / severe / very severe
- mild / mild to moderate / moderate / moderate to severe / severe / life threatening / fatal

726633004 |Temporally related to (attribute)| applies to perioperative complications and clinical findings where there is no causal relationship but a time-relative association exists.

This attribute is self-grouped.

Disorder Combination Modeling

Many disorders can occur in combination within the same patient. Guidance on the modeling and terming of FSNs for disorder combinations aims to achieve consistency. Clinically significant disorder combinations are represented in SNOMED CT by a single concept so that users can document temporal (timing) and causal (cause/effect) relationships between the conditions.

Expressing Associations

To express an association between conditions, one of the following associations is used:

Simple co-occurrence: two or more conditions have no direct causal or temporal relationship but are found together more often than by random chance
Causation 1: the cause is another finding or disorder, an event, or procedure
Causation 2: the cause is a physical force, physical object, organism, or substance
Temporal association: the timing of the two conditions occur before, during, or after each other

When considering disorder combinations two questions can be asked:

Is there a causal relationship?
What is the temporal relationship?

The following table provides the possible combinations of answers. It allows authors to assign combination disorders to a corresponding category below, to which the appropriate modeling and FSN construction is applied.

Is there a stated causal relationship?

Temporal relationship

Resulting FSN pattern

*Note: |Temporally related to (attribute)| and its subtypes Before and During are only approved to model perioperative complications and a limited number of other clinical findings.

FSN: X with Y

Assign each condition as a supertype (or ensure that each participating disorder is present in the ancestor tree following classification).

Use simple co-occurrence for two or more conditions that are strongly associated by means other than causality or a temporal relationship (e.g. a common predisposition) where representing such conditions as separate statements would result in a loss of the associated between the conditions.

For example,

Named syndromes, such as 398114001 | Ehlers-Danlos syndrome (disorder)|
Manifestations of systemic disorders, such as 83901003 |Sjögren's syndrome (disorder)|

Do not use simple co-occurrence for those disorders with more than one anatomical site or more than one associated morphology. Those disorders should rather be represented as individual concepts in a medical record.

Correct examples:

· Sinusitis with nasal polyps (disorder)

· Acute bronchitis with bronchiectasis (disorder)

Incorrect examples not to be repeated:

· Psoriasis-eczema overlap condition (disorder)

· Hay fever with asthma (disorder)

Causation 1 applies when the cause is another finding, disorder, event, or procedure

For conditions that are causal, or causal and co-occurring, construct the FSN with due to

X due to Y

For conditions specified as causal and temporal, construct the FSN with due to and the temporal relationship

X due to and following Y

Assign the causal disorder as the target of a Due to relationship
When modeling only causation, ensure the caused condition is represented in the supertypes and/or axioms

Ensure the caused condition is represented as a supertype and/or axiom
Ensure Disease (disorder) or the appropriate intermediate primitive is a supertype
Assign the procedure as the target of a Due to relationship

Ensure the caused condition is represented as a supertype and/or axiom
Assign the event as the target of a Due to relationship

735173007 | Shock due to anaphylaxis (disorder)| is an example of a condition caused by a clinical finding/disorder. Because the shock and the anaphylaxis are co-occurring, both conditions are represented in the supertypes and axioms, in addition to the Due to relationship.
413532003 | Anemia due to blood loss (disorder)| is an example of a condition caused by a clinical finding/disorder. Because the bleeding could have been controlled and thus not necessarily present, only causation is modeled in this concept. The blood loss/bleeding is not represented as a supertype.

Neutropenia associated with acquired immunodeficiency syndrome (disorder) - Do not use associated; use only with instead. So, |Neutropenia with acquired immunodeficiency syndrome (disorder)|.
Dilated cardiomyopathy secondary to granuloma (disorder) - Do not use secondary to; use due to instead. So, |Dilated cardiomyopathy due to granuloma (disorder)|.

Causation 2 applies when ¹the cause is a material entity, and ²the means of exposure/introduction are not significant.

A material entity refers to a concept within the Substance, Physical object, Pharmaceutical/biologic product, Physical force, and Organism hierarchies.
If the means of exposure/introduction are significant, then the causal factor is represented by a concept from the Event hierarchy, and the concept is modeled as Causation 1.

FSN: X caused by Y

Assign the caused disorder (X) as a supertype, or ensure that the caused disorder is a supertype following classification.

Assign the causal factor (Y) as the value of a Causative agent (attribute).

Contact dermatitis caused by chemical (disorder)

Choking due to airway obstruction (finding)
Coma associated with diabetes mellitus (disorder)
Laser-induced burn (disorder)

Where X occurs after Y:

if it is not specified that X is due to Y (although causality is frequently implied), construct the FSN as X following Y

Assign the condition or procedure that occurred first in the patient as the target of an After (attribute) relationship. Assign the condition that occurred second as a supertype (or ensure its presence in the ancestor tree).

Examples:

402490007 |Calcinosis following localized fat necrosis (disorder)|
- The fat necrosis occurred first in the patient, so this concept will have an After (attribute) with a value of Fat necrosis (disorder). The calcinosis occurred secondarily, and thus Calcinosis (disorder) is a supertype of this concept.
16055031000119100 |Astigmatism of right eye following operative procedure (disorder)|

Not all disorders occurring in combination should be precoordinated into a single concept. Multiple clinical conditions should not be precoordinated in order to facilitate convenient recording in the medical record, even if the two conditions are often reported together.

For example,
- The clinical conditions gastroenteritis and dehydration often occur in combination but require separate resolution, and therefore, are best recorded separately in the medical record as 25374005 |Gastroenteritis (disorder)| and 34095006 |Dehydration (disorder)|.

In general, 47429007 |Associated with (attribute)| should be avoided due to the ambiguity which it conveys and the difficulty in applying this role consistently. Instead, Due to is used when there is a direct causal relationship between the conditions; otherwise, the clinical conditions should be recorded as separate concepts in the medical record.

There are a couple of exceptions when the use of 47429007 |Associated with (attribute)| is appropriate:

Associated with is used to associate the device with a complication where the device may not be a direct cause.
- For example, an infection of the tissue surrounding an implanted or inserted device is associated with the device but may not be due to the device itself.

Involves the propensity of an adverse reaction to a substance to occur (other than hypersensitivity or allergic or non-allergic hypersensitivity).

Associated with is used to associate the intolerance to the substance.

It must be determined if a disorder is caused either by another disorder or by a material entity. A material entity is a concept found in Substance, Physical object, Pharmaceutical/biologic product, Physical force, or Organism subhierarchies. These subhierarchies are the current range constraints for the Causative agent (attribute) in the Clinical finding domain. For combined disorders where a cause can be either a disorder (eg, alcoholism) or a material entity (eg, alcohol):

Model as due to disorder if it is the indirect cause.

For example,
- Megaloblastic anemia due to alcoholism (disorder)

Model as caused by material entity if it is the direct cause.

For example,
- Inflammation of pancreas caused by alcohol (disorder)

In modeling concepts related to infectious diseases, a number of considerations need to be taken into account.

When the disorder is an infectious disease itself, and the organism is specified, then the concept will be modeled with
1. |Causative agent (attribute)| with the specified organism
2. |Pathological process (attribute)| with the type of infectious process

If the focus disorder is itself an infectious disorder, it will also have a |Causative agent| relationship when the organism is specified.
- For example,
  - |Causative agent| relationship: 721742004 |Otitis media caused by Streptococcus pneumoniae (disorder)|

In some cases, the DUE TO takes precedence because of a relationship between the causative agent and the DUE TO disorder.

For example,

|Disorder due to alcohol abuse (disorder)|

In other cases, the DUE TO relationship is used as a means to classify the concept appropriately while the CAUSATIVE AGENT takes precedence.

For example,

1251395000 |Injury of skin caused by class Anthozoa (disorder)|

In this case, the DUE TO represents the "injury" part of the concept and allows classification as a traumatic injury. An alternative, but less appealing FSN would have been |Disorder of skin due to traumatic injury caused by class Anthoza|. So, if the concept FSN specifies a disorder causally associated with another disorder, then use due to in the FSN; if the FSN specifies a disorder causally associated with an agent (organism, physical object, substance, etc.), then use caused by in the FSN.

Exceptions may exist to the above guidance which requires review on a case-by-case basis.

The FSN submitted by a requestor may be used as preferred term even if it does not comply with the above recommended pattern. However, do not use phrases such as secondary to, as a result of, etc., in lieu of due to.

Rather than the naming conventions described above, use the names that are accepted clinical parlance and that represent specific pathophysiologic entities for some combined disorders, as the preferred term.

The stricter rules for FSN construction do not prevent the addition of more familiar connectives in other descriptions, for example with, or associated with.

Clinical Finding Defining Attributes

After

Clinical Finding and Disorder Naming Conventions

FSN

FSN Pattern

Use of -opathy

Lateralized Disorder Naming Conventions

Right, left disorder concepts

Specific Clinical finding and Disorder Modeling

Acquired abnormality of congenital anomaly

Arrhythmia

Bacterial disorders with organism or toxin

Combining Morphologic Abnormalities

Death

Genetic, developmental, congenital, and physical origin

Co-occuring Genomic Disorders

Germline chromosomal abnormality co-occurring and causing disorder: 41040004 | Complete trisomy 21 syndrome (disorder)|

Germline nucleotide sequence variant co-occurring and causing disorder: 190905008 | Cystic fibrosis (disorder)|

Somatic NSV (NCBI structural variant) co-occurring and poly-etiologic : BRAF V600E positive melanoma

Infectious vs. inflammatory

Ischemia

Malformation, deformation, anomaly

Mental health

Neoplasm

Obstruction

Overdose

Pulmonary embolism

Remission

Disorder in remission

Rheumatoid arthritis

Substance withdrawal syndrome

Acquired abnormality of congenital anomaly

Lateralized Disorder Naming Conventions

Right, left disorder concepts

Bilateral disorder concepts

When the body structure and the morphologic abnormality are combined into one word, the following naming pattern applies:

When the body structure and morphologic abnormality are separate, the following naming pattern applies:

Modeling of bilateral disorders

Arrhythmia

Genetic, developmental, congenital, and physical origin

Co-occuring Genomic Disorders

Germline chromosomal abnormality co-occurring and causing disorder: 41040004 | Complete trisomy 21 syndrome (disorder)|

Germline nucleotide sequence variant co-occurring and causing disorder: 190905008 | Cystic fibrosis (disorder)|

Somatic NSV (NCBI structural variant) co-occurring and poly-etiologic : BRAF V600E positive melanoma

Somatic IHC (immunohistochemical) finding co-occurring but not etiologic: Estrogen-receptor status in breast cancer

Developmental

Familial

Hereditary

Clinical Finding and Disorder Naming Conventions

FSN

FSN Pattern

Use of -opathy

Order of site and morphology

Descriptions that include body structures

The term Disorder

Disorder X without Disorder Y

Requires [procedure/drug] (finding)

Region

Allergy to substances, multiple substances

Allergic and nonallergic hypersensitivity (pseudoallergic) dispositions

Pattern - Allergy to single substance:

Pattern - Allergy to multiple substances:

Allergic and nonallergic hypersensitivity (pseudoallergic) disorders

Allergic and nonallergic hypersensitivity (pseudoallergic) reactions

Contact hypersensitivity

Intolerance to substances

Inadequate and excessive intake of energy and nutrients

Neoplasm

Tumor vs. neoplasm

Primary malignant neoplasm

Metastatic malignant neoplasm

Use of the term cancer

Neoplasia

Neoplasm versus hamartoma

Nevus

Overlapping neoplasm

Congenital neoplasm

Infectious vs. inflammatory

Rheumatoid arthritis

Mental health