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acrocefalopolysyndactylie type 2 (aandoening)
acrocefalopolysyndactylie type 2
ACPS 2
Carpenter-syndroom
syndroom van Carpenter
Acrocephalopolysyndactyly type II
Carpenter syndrome
Acrocephalopolysyndactyly type 2
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
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified