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 RAB23, member of the RAS oncogene family and the MEGF8 gene, encoding multiple EGF like domains 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity. *Check with Liz about this phrasing. Something seems off to me about this, but as this is her expertise not mine, I shall defer to her.;

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
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RAB23 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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