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Acrocephalopolysyndactyly type II (disorder)
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.
acrocefalopolysyndactylie type 2
ACPS 2
Carpenter-syndroom
syndroom van Carpenter
Id403767009
StatusPrimitive
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal fusion
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified