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.
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.
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 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
The term phrase, "co-occurrent and due to" is no longer to be used in the fully specified name. There are existing concepts that use the co-occurrent and due to pattern, but these will be re-termed. Genetic mutations that cause a disorder are by definition co-occurrent, so there is no need to represent this in the FSN, but they should be modeled as co-occurring, i.e. supertypes for both conditions should be present.