neuhauser syndrome

Preferred Label : neuhauser syndrome;

MeSH synonym : megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome; MMR syndrome; seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome; cerebral palsy-hypotonic seizures-megalcornea syndrome; megalocornea mental retardation syndrome; Megalocornea-Mental retardation syndrome;

Details

Origin ID

C536143;

UMLS CUI

C0796086;

Currated CISMeF NLP mapping
- Megalocornea with intellectual disability syndrome (disorder) [SNOMED CT concept]
- Megalocornea-intellectual disability syndrome [ORDO Disease]
- Megalocornea-mental retardation syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- cerebral palsy [MeSH Descriptor]
- corneal diseases [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Neuhauser syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalocornea with intellectual disability syndrome (disorder) [SNOMED CT concept]
- Megalocornea-intellectual disability syndrome [ORDO Disease]
- Megalocornea-mental retardation syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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