microphthalmia and mental deficiency

Preferred Label : microphthalmia and mental deficiency;

MeSH note : Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia;

MeSH synonym : pinsky DiGeorge harley syndrome; microphthalmos, severe mental retardation, and spastic cerebral palsy; colobomatous microphthalmia; microphthalmia, colobomatous;

Détails

Origin ID

C537462;

UMLS CUI

C2931500;

Automatic exact mappings (from CISMeF team)
- Colobomatous microphthalmia [ORDO Disease]
- Colobomatous microphthalmia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pinsky-Di George-Harley syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- brain diseases, metabolic, inborn [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- corneal opacity [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- Microphthalmia and mental deficiency [MeSH concept]
See also (suggested by CISMeF)
- microphthalmia associated with colobomatous cyst [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Microphthalmos co-occurrent with congenital ocular coloboma (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pinsky-Di George-Harley syndrome [ORDO Disease]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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