Type I Acrocephalosyndactyly

Preferred Label : Type I Acrocephalosyndactyly;

NCIt synonyms : Apert Syndrome;

NCIt related terms : Acrocephalosyndactyly Type I;

NCIt definition : An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.;

Details

Origin ID

C99099;

UMLS CUI

C0001193;

Currated CISMeF NLP mapping
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [ORDO Disease]
- Apert syndrome [OMIM Phenotype]
- Apert syndrome [Radlex concept]
- Apert syndrome [Disease (Nov.)]
- Apert syndrome [PASCAL descriptor]
- Apert syndrome [ICD-11 Sub-sub category]
- Apert's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [OMIM Phenotype]
- Apert syndrome [Radlex concept]
- Apert's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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