Norrie Syndrome

Preferred Label : Norrie Syndrome;

NCIt definition : A rare, X-linked recessive inherited syndrome caused by mutations in the NDP gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.;

Details

Origin ID

C118634;

UMLS CUI

C0266526;

Currated CISMeF NLP mapping
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie disease [ORDO Disease]
- Norrie disease [OMIM Phenotype]
- Norrie disease [MeSH concept]
- Norrie disease [DO Concept]
- Norrie disease [PASCAL descriptor]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]
- norrie disease [MeSH Supplementary Concept]
DO Cross reference
- Norrie disease [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie disease [ORDO Disease]
- Norrie disease [PASCAL descriptor]
- Norrie disease [DO Concept]
- Norrie disease [OMIM Phenotype]
- Norrie disease [MeSH concept]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]
- norrie disease [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NDP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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