norrie disease

Preferred Label : norrie disease;

MeSH synonym : pseudoglioma; norrie syndrome; Norrie-Warburg syndrome; atrophia bulborum hereditaria; episkopi blindness; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration; Fetal Iritis Syndrome; Norrie's Disease; Oligophrenia Microphthalmus; Pseudoglioma Congenita; Whitnall-Norman Syndrome; Anderson-Warburg Syndrome;

Détails

Origin ID

C537849;

UMLS CUI

C0266526;

Automatic exact mappings (from CISMeF team)
- Norrie disease [ICD-11 More detail]
Currated CISMeF NLP mapping
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie Syndrome [NCIt concept]
- Norrie disease [PASCAL descriptor]
- Norrie disease [DO Concept]
- Norrie disease [OMIM Phenotype]
- Norrie disease [ORDO Disease]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]
DO Cross reference
- Norrie disease [DO Concept]
MeSH term(s) associated for indexing
- blindness [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- nervous system diseases [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
- spasms, infantile [MeSH Descriptor]
ORDO relation(s)
- Norrie disease [ORDO Disease]
Record concept(s)
- Norrie disease [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie Syndrome [NCIt concept]
- Norrie disease [ORDO Disease]
- Norrie disease [OMIM Phenotype]
- Norrie disease [DO Concept]
- Norrie disease [PASCAL descriptor]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]

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