Severe Neonatal Encephalopathy Due to MECP2 Mutations

Preferred Label : Severe Neonatal Encephalopathy Due to MECP2 Mutations;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.;

Details

Origin ID

C132293;

UMLS CUI

C1968556;

Automatic exact mappings (from CISMeF team)
- Encephalopathy, neonatal severe, due to mecp2 mutations [OMIM Phenotype]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH Supplementary Concept]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH concept]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
DO Cross reference
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy, neonatal severe, due to mecp2 mutations [OMIM Phenotype]
- Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy (disorder) [SNOMED CT concept]
- Severe neonatal onset encephalopathy with microcephaly (disorder) [SNOMED CT concept]
- Severe neonatal-onset encephalopathy with microcephaly [ORDO Disease]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH Supplementary Concept]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH concept]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- MECP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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