autosomaal dominante hereditaire aandoening
brachydactylie
hereditaire ontwikkelingsstoornis
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brachydactylie type A5 (aandoening)
brachydactylie type A5
Brachydactyly type A5
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.
Id720570007
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified