Corpus callosum, agenesis of

Preferred Label : Corpus callosum, agenesis of;

CISMeF acronym : ACC;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : ACC;

Description : The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.;

Inheritance : Autosomal recessive;

Prefixed ID : %217990;

Details

Origin ID

217990;

UMLS CUI

C0175754;

Automatic exact mappings (from CISMeF team)
- ACACA wt Allele [NCIt concept]
- Acetyl-CoA Carboxylase 1 [NCIt concept]
- Amorphous Calcium Carbonate [NCIt concept]
- Canonical Correlation Analysis [MeSH Descriptor]
- Congenital malformations of corpus callosum [ICD-10 Sub-category]
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome [ORDO Disease]
- heart arrest [MeSH Descriptor]
Currated CISMeF NLP mapping
- Agenesis of corpus callosum [HPO term]
- Agenesis 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]
- Isolated corpus callosum agenesis [ORDO Disease]
- agenesis of corpus callosum [MeSH Descriptor]
- agenesis of corpus callosum [MeSH concept]
- agenesis of corpus callosum [SNOMED Notion]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Preauricular skin tag [HPO term]
- Prominent forehead [HPO term]
Narrower ORDO disease(s)
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome [ORDO Disease]
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]
- Isolated corpus callosum agenesis [ORDO Disease]
- agenesis of corpus callosum [SNOMED Notion]
- agenesis of corpus callosum [MeSH Descriptor]
- agenesis of corpus callosum [MeSH concept]

Keyword's position in hierarchy(ies) :

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