Carpenter syndrome

Preferred Label : Carpenter syndrome;

ICD-11 definition : Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is defined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes.;

Details

Origin ID

2132713612;

Automatic exact mappings (from CISMeF team)
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Carpenter syndrome [ORDO Disease]
- Carpenter syndrome [DO Concept]
- Carpenter syndrome [MedDRA Preferred Term]
- Carpenter syndrome [OMIM phenotypic series]
- Carpenter syndrome 1 [OMIM Phenotype]
- Carpenter's syndrome (disorder) [Inactive SNOMED CT concept]
- Type II Acrocephalopolysyndactyly [NCIt concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients