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

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

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.

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