Apert syndrome

Preferred Label : Apert syndrome;

Definition : Acrocephalosyndactyly.;

Origin ID

RID35015;

UMLS CUI

C0001193;

Currated CISMeF NLP mapping
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [Disease (Nov.)]
- Apert syndrome [PASCAL descriptor]
- Apert syndrome [ICD-11 Sub-sub category]
- Apert syndrome [OMIM Phenotype]
- Apert syndrome [ORDO Disease]
- Apert's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- Type I Acrocephalosyndactyly [NCIt concept]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [MeSH Descriptor]
- 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's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- Type I Acrocephalosyndactyly [NCIt concept]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]