Type II Acrocephalopolysyndactyly

Preferred Label : Type II Acrocephalopolysyndactyly;

NCIt synonyms : Acrocephalopolysyndactyly Type II; Carpenter Syndrome;

NCIt related terms : Carpenter's Syndrome;

NCIt definition : An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.;

Alternative definition : NICHD: An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding Ras-related protein RAB23, a member of the RAS oncogene family and the MEGF8 gene, encoding multiple epidermal growth factor-like domains protein 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity.;

Details

Origin ID

C98873;

UMLS CUI

C1275078;

Automatic exact mappings (from CISMeF team)
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
- crouzon syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Carpenter syndrome [ORDO Disease]
- Carpenter syndrome [DO Concept]
- Carpenter syndrome [ICD-11 More detail]
- Carpenter syndrome [MedDRA Preferred Term]
- Carpenter syndrome [OMIM phenotypic series]
- Carpenter's syndrome (disorder) [Inactive SNOMED CT concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]
- acrocephalopolysyndactyly type II [MeSH concept]
DO Cross reference
- Carpenter syndrome [DO Concept]
False automatic mappings
- autoimmune polyglandular syndrome type II [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Carpenter syndrome [ORDO Disease]
- Carpenter syndrome [DO Concept]
- Carpenter syndrome [MedDRA Preferred Term]
- Carpenter syndrome 1 [OMIM Phenotype]
- Carpenter's syndrome (disorder) [Inactive SNOMED CT concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]
- acrocephalopolysyndactyly type II [MeSH concept]
Validated automatic mappings to BTNT
- Carpenter syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- acrocephalosyndactylia [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MEGF8 Gene [NCIt concept]
- RAB23 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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