brachydactylie type A2 (aandoening)
brachydactylie type A2
brachydactylie type Mohr-Wriedt
Brachydactyly type A2
Brachydactyly Mohr Wriedt type
A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93396
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified