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brachydactylie type A1 (aandoening)
brachydactylie type A1
brachydactylie type Farabee
Brachydactyly type A1
Brachydactyly Farabee type
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
Id715720006
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele falanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93388
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified