Megalencephaly, autosomal dominant

Preferred Label : Megalencephaly, autosomal dominant;

Type : Phenotype or locus, molecular basis unknown;

Description : Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999).;

Inheritance : Autosomal dominant;

Prefixed ID : %155350;

Details

Origin ID

155350;

UMLS CUI

C3805727;

Automatic exact mappings (from CISMeF team)
- malformations of cortical development [MeSH Descriptor]
Currated CISMeF NLP mapping
- Macroencephaly (disorder) [SNOMED CT concept]
- Megalencephaly [PASCAL descriptor]
- Megalencephaly [MeSH Descriptor]
- Megalencephaly [MeSH concept]
- Megalencephaly [ICD-10 Sub-category]
- Megalencephaly [ICD-11 Subcategory]
- Megalencephaly [ICD-10 Sub-category (who)]
- Megalencephaly [HPO term]
- Megalencephaly [ORDO Disease]
- Megalencephaly [HRDO Sign]
- macroencephaly [SNOMED Notion]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
ORDO concept(s)
- Megalencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- macrocephaly [Disease (Nov.)]
- megalencephaly [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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