night blindness, congenital stationary

Preferred Label : night blindness, congenital stationary;

MeSH synonym : congenital stationary night blindness;

MeSH hyponym : Xlcsnb; Night Blindness, Congenital Stationary, Complete, Autosomal Recessive; CSNB1B; Night Blindness, Congenital Stationary, Type 2; CSNB2; CSNB, Incomplete, X-Linked; X-linked congenital stationary night blindness; CSNB2A; CSNB, Incomplete, Autosomal Recessive; Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive; CSNB2B; CRSD; Hemeralopia-myopia; CSNB1A; CSNB, Complete, X-Linked; Night blindness, congenital stationary, with myopia; Myopia-night blindness;

Details

Origin ID

C536122;

UMLS CUI

C0339535;

Automatic exact mappings (from CISMeF team)
- Night blindness, congenital stationary [OMIM phenotypic series]
- calcium binding protein 4 [ORDO Gene]
- glutamate metabotropic receptor 6 [ORDO Gene]
- nyctalopin [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital stationary night blindness [ICD-11 More detail]
- Congenital stationary night blindness [HPO term]
- Congenital stationary night blindness [ORDO Disease]
- Congenital stationary night blindness (disorder) [SNOMED CT concept]
- congenital stationary night blindness [DO Concept]
- congenital stationary night blindness [Disease (Nov.)]
MeSH term(s) associated for indexing
- eye diseases, hereditary [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- myopia [MeSH Descriptor]
- night blindness [MeSH Descriptor]
ORDO relation(s)
- Congenital stationary night blindness [ORDO Disease]
Record concept(s)
- Cone-rod synaptic disorder, congenital nonprogressive [MeSH concept]
- Night blindness, congenital stationary [MeSH concept]
- X-Linked csnb [MeSH concept]
- night blindness, congenital stationary, type 1 [MeSH concept]
- night blindness, congenital stationary, type 1A [MeSH concept]
- night blindness, congenital stationary, type 1B [MeSH concept]
- night blindness, congenital stationary, type 2A [MeSH concept]
- night blindness, congenital stationary, type 2B [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital stationary night blindness [ORDO Disease]
- Congenital stationary night blindness [HPO term]
- Congenital stationary night blindness (disorder) [SNOMED CT concept]
- congenital stationary night blindness [Disease (Nov.)]
Validated automatic mappings to BTNT
- Cone-rod synaptic disorder, congenital nonprogressive [OMIM Phenotype]
- Night blindness, congenital stationary, type 1a [OMIM Phenotype]
- Night blindness, congenital stationary, type 1b [OMIM Phenotype]
- Night blindness, congenital stationary, type 2a [OMIM Phenotype]
- congenital stationary night blindness 1A [DO Concept]
- congenital stationary night blindness 1B [DO Concept]
- congenital stationary night blindness type 1 [Disease (Nov.)]
- congenital stationary night blindness type 1a [Disease (Nov.)]
- congenital stationary night blindness type 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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