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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