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acrocefalopolysyndactylie type 2 (aandoening)
acrocefalopolysyndactylie type 2
syndroom van Carpenter
ACPS 2
Carpenter-syndroom
Acrocephalopolysyndactyly type II
Acrocephalopolysyndactyly type 2
Carpenter syndrome
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.
Id403767009
StatusPrimitive
Global Patient Set
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map65759
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified