Acrocephalosyndactyly

Preferred Label : Acrocephalosyndactyly;

NCIt definition : A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.;

Details

Origin ID

C34348;

UMLS CUI

C1510455;

Currated CISMeF NLP mapping
- Acrocephalosyndactylia [PASCAL descriptor]
- Acrocephalosyndactyly [MedDRA Preferred Term]
- Acrocephalosyndactyly [ICD-9 code]
- Acrocephalosyndactyly [ORDO Disease]
- Acrocephalosyndactyly [MedDRA LLT]
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]
- acrocephalosyndactylia [Disease (Nov.)]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [MeSH Descriptor]
- acrocephalosyndactylia [MeSH concept]
- apert's syndrome [SNOMED Notion]
DO Cross reference
- acrocephalosyndactylia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactylia [PASCAL descriptor]
- Acrocephalosyndactyly [ORDO Disease]
- Acrocephalosyndactyly [ICD-9 code]
- Acrocephalosyndactyly [MedDRA Preferred Term]
- Acrocephalosyndactyly [MedDRA LLT]
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [Disease (Nov.)]
- acrocephalosyndactylia [MeSH Descriptor]
- acrocephalosyndactylia [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
disease_has_associated_gene
- FGFR2 Gene [NCIt concept]
- FGFR2 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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