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camptobrachydactylie (aandoening)
camptobrachydactylie
Camptobrachydactyly
An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Id733045005
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ74.8
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
SNOMED CT to Orphanet simple map1319
SNOMED CT to ICD-10 extended map
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified