acrocallosal syndrome

Preferred Label : acrocallosal syndrome;

MeSH definition : Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.;

MeSH synonym : acrocallosal syndromes; syndrome, acrocallosal; syndromes, acrocallosal; hallux duplication, postaxial polydactyly, and absence of corpus callosum;

Details

Origin ID

D055673;

UMLS CUI

C0796147;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Dysgenesis of corpus callosum [HPO term]
CISMeF manual mappings
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [ICD-11 More detail]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome [ORDO Disease]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
DO Cross reference
- acrocallosal syndrome [DO Concept]
Record concept(s)
- acrocallosal syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- acrocallosal syndrome, schinzel type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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