acrocallosal syndrome, schinzel type

Preferred Label : acrocallosal syndrome, schinzel type;

MeSH note : Schinzel syndrome also available (C536937); Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly;

MeSH synonym : schinzel syndrome 1; schinzel acrocallosal syndrome;

Details

Origin ID

C538177;

UMLS CUI

C2931760;

Currated CISMeF NLP mapping
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome [ORDO Disease]
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- Acrocallosal syndrome, Schinzel type [MedDRA LLT]
- acrocallosal syndrome [DO Concept]
MeSH term(s) associated for indexing
- acrocallosal syndrome [MeSH Descriptor]
Record concept(s)
- Acrocallosal syndrome, Schinzel type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocallosal syndrome [ORDO Disease]
- Acrocallosal syndrome, Schinzel type [MedDRA LLT]
Validated automatic mappings to NTBT
- Acrocallosal syndrome [ICD-11 More detail]
- acrocallosal syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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