encephalopathy, neonatal severe, due to Mecp2 mutations

Preferred Label : encephalopathy, neonatal severe, due to Mecp2 mutations;

MeSH synonym : Mecp2-Related Severe Neonatal Encephalopathy;

Origin ID

C566878;

UMLS CUI

C1968556;

Automatic exact mappings (from CISMeF team)
- Severe Neonatal Encephalopathy Due to MECP2 Mutations [NCIt concept]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
Currated CISMeF NLP mapping
- 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 [ORDO Disease]
DO Cross reference
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
Record concept(s)
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH 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 Encephalopathy Due to MECP2 Mutations [NCIt concept]
- Severe neonatal onset encephalopathy with microcephaly (disorder) [SNOMED CT concept]
- Severe neonatal-onset encephalopathy with microcephaly [ORDO Disease]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]