X-Linked infantile nystagmus

Preferred Label : X-Linked infantile nystagmus;

MeSH synonym : Frmd7-Related infantile nystagmus; X-Linked idiopathic infantile nystagmus; Nys1; X-Linked congenital nystagmus; congenital motor nystagmus; idiopathic infantile nystagmus;

Is substance : O;

Details

Origin ID

C580539;

UMLS CUI

C0585539;

Automatic exact mappings (from CISMeF team)
- Congenital idiopathic nystagmus [ORDO Disease]
- Congenital nystagmus without sensory abnormality (disorder) [SNOMED CT concept]
- FERM domain containing 7 [ORDO Gene]
- Nystagmus 1, congenital, X-linked [OMIM Phenotype]
- congenital nystagmus 1 [DO Concept]
Currated CISMeF NLP mapping
- x linked infantile nystagmus [Disease (Nov.)]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- nystagmus, congenital [MeSH Descriptor]
Record concept(s)
- X-Linked infantile nystagmus [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital nystagmus without sensory abnormality (disorder) [SNOMED CT concept]
- x linked infantile nystagmus [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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