agenesis of corpus callosum

Preferred Label : agenesis of corpus callosum;

MeSH definition : Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.;

MeSH synonym : corpus callosum ageneses; corpus callosum hypogenesis; corpus callosum hypogeneses; hypogeneses, corpus callosum; hypogenesis, corpus callosum; corpus callosum dysgenesis; corpus callosum dysgeneses; dysgeneses, corpus callosum; dysgenesis, corpus callosum; absence of corpus callosum; corpus callosum absence; corpus callosum absences; corpus callosum agenesis; ageneses, corpus callosum; agenesis, corpus callosum; corpus callosum, agenesis of;

Wikipedia automatic translation supervised : Agenesis of the corpus callosum;

Related MeSH term : corpus callosum malformation;

Wikipedia link supervised : https://en.wikipedia.org/wiki/Agenesis of the corpus callosum;

Details

Origin ID

D061085;

UMLS CUI

C0175754;

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)
- Congenital malformations of corpus callosum [ICD-10 Sub-category]
- Congenital malformations of corpus callosum [ICD-10 Sub-category (who)]
- Dysgenesis of corpus callosum [HPO term]
- Dysgenesis of corpus callosum (disorder) [Inactive SNOMED CT concept]
- Dysplastic corpus callosum [HPO term]
Currated CISMeF NLP mapping
- Agenesis of corpus callosum [HPO term]
- Agenesis of corpus callosum (disorder) [SNOMED CT concept]
- Congenital malformation of corpus callosum (disorder) [SNOMED CT concept]
- Corpus Callosum Agenesis [NCIt concept]
- Corpus callosum agenesis [PASCAL descriptor]
- Corpus callosum agenesis [ICD-11 Subcategory]
- Corpus callosum agenesis [MedDRA LLT]
- Corpus callosum, agenesis of [OMIM Phenotype]
- agenesis of corpus callosum [SNOMED Notion]
HPO term
- Agenesis of corpus callosum [HPO term]
MeSH Descriptor(s) used for indexing
- corpus callosum [MeSH Descriptor]
Record concept(s)
- agenesis of corpus callosum [MeSH concept]
- corpus callosum malformation [MeSH concept]
Related MeSH Supplementary Concept(s)
- CAMFAK syndrome [MeSH Supplementary Concept]
- Chudley-Mccullough syndrome [MeSH Supplementary Concept]
- Donnai-Barrow syndrome [MeSH Supplementary Concept]
- Faye-Petersen ward carey syndrome [MeSH Supplementary Concept]
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- absent corpus callosum cataract immunodeficiency [MeSH Supplementary Concept]
- ben ari shuper mimouni syndrome [MeSH Supplementary Concept]
- calloso-genital dysplasia [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 2 [MeSH Supplementary Concept]
- corpus callosum agenesis neuronopathy [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH Supplementary Concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH Supplementary Concept]
- curatolo cilio pessagno syndrome [MeSH Supplementary Concept]
- duker weiss siber syndrome [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH Supplementary Concept]
- kozlowski ouvrier syndrome [MeSH Supplementary Concept]
- lissencephaly and agenesis of corpus callosum [MeSH Supplementary Concept]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH Supplementary Concept]
- microcephaly, corpus callosum dysgenesis and cleft lip-palate [MeSH Supplementary Concept]
- nakamura osame syndrome [MeSH Supplementary Concept]
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH Supplementary Concept]
- partial agenesis of corpus callosum [MeSH Supplementary Concept]
- proud syndrome [MeSH Supplementary Concept]
- recurrent spontaneous hypothermia with hypoplasia of the corpus callosum [MeSH Supplementary Concept]
- saal bulas syndrome [MeSH Supplementary Concept]
- sakoda complex [MeSH Supplementary Concept]
- shapiro syndrome [MeSH Supplementary Concept]
- short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting [MeSH Supplementary Concept]
- stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features [MeSH Supplementary Concept]
- temtamy syndrome [MeSH Supplementary Concept]
- thrombocytopenia robin sequence [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of corpus callosum [HPO term]
- Agenesis of corpus callosum (disorder) [SNOMED CT concept]
- Corpus Callosum Agenesis [NCIt concept]
- Corpus callosum agenesis [MedDRA LLT]
- Corpus callosum, agenesis of [OMIM Phenotype]
- Isolated corpus callosum agenesis [ORDO Disease]
- agenesis of corpus callosum [SNOMED Notion]

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