Page History

Germline chromosomal abnormality co-occurring and causing disorder: 

Concept
t 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: 

Concept
t 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. 

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• • 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.

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• • 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. 

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