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syndroom van schedelhuiddefect en postaxiale polydactylie (aandoening)
syndroom van schedelhuiddefect en postaxiale polydactylie
Scalp defect postaxial polydactyly syndrome
Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant.
Id726629006
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map1003
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified