Al Gazali Sabrinathan Nair syndrome

Preferred Label : Al Gazali Sabrinathan Nair syndrome;

MeSH note : Osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay;

CISMeF synonym : Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit;

Details

Origin ID

C535617;

UMLS CUI

C2930952;

Automatic exact mappings (from CISMeF team)
- Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit [ICD-11 More detail]
Currated CISMeF NLP mapping
- Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- developmental disabilities [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
- osteogenesis imperfecta [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
Record concept(s)
- Al Gazali Sabrinathan Nair syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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