Acrocallosal Syndrome

Preferred Label : Acrocallosal Syndrome;

NCIt definition : A rare genetic syndrome characterized by agenesis of the corpus callosum, polydactyly, mental and motor retardation.;

Details

Origin ID

C84531;

UMLS CUI

C0796147;

CISMeF manual mappings
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocallosal syndrome [ORDO Disease]
- Acrocallosal syndrome [ICD-11 More detail]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome, Schinzel type [MeSH concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
- acrocallosal syndrome [MeSH Descriptor]
- acrocallosal syndrome [MeSH concept]
- acrocallosal syndrome, schinzel type [MeSH Supplementary Concept]
DO Cross reference
- acrocallosal syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
- acrocallosal syndrome [MeSH concept]
- acrocallosal syndrome [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- KIF7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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