Cone-Rod Dystrophies

Preferred Label : Cone-Rod Dystrophies;

MeSH definition : Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.;

MeSH synonym : Cone Rod Dystrophies; Retinal Cone-Rod Dystrophy; Cone-Rod Dystrophies, Retinal; Cone-Rod Dystrophy, Retinal; Retinal Cone Rod Dystrophy; Retinal Cone-Rod Dystrophies; Cone-Rod Retinal Dystrophy; Cone Rod Retinal Dystrophy; Cone-Rod Retinal Dystrophies; Retinal Dystrophies, Cone-Rod; Retinal Dystrophy, Cone-Rod; Cone-Rod Dystrophy; Cone Rod Dystrophy; Cone-Rod Degenerations; Cone Rod Degenerations; Cone-Rod Degeneration;

DeCS synonym : Cone-Rod Dystrophy 2;

MeSH hyponym : Cone Rod Dystrophy 2; Rod-Cone Dystrophies; Rod Cone Dystrophies; Rod Cone Dystrophy;

MeSH annotation : ROD CONE DYSTROPHIES see RETINITIS PIGMENTOSA is also available;

Details

Origin ID

D000071700;

UMLS CUI

C4085590;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Cone-rod dystrophy 2 [OMIM Phenotype]
- Cone-rod dystrophy/cone dystrophy [OMIM phenotypic series]
- Unc119 lipid-binding chaperone [OMIM Phenotype]
CISMeF manual mappings
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone rod dystrophy [PASCAL descriptor]
- Cone rod dystrophy [ICD-11 More detail]
- Cone-rod dystrophy [MedDRA Preferred Term]
- Cone/cone-rod dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- cone rod dystrophy [Disease (Nov.)]
- cone-rod dystrophy [DO Concept]
Record concept(s)
- Cone-Rod Dystrophies [MeSH concept]
- Cone-Rod dystrophy 2 [MeSH concept]
- Rod-Cone Dystrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- Jalili syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone rod dystrophy [ORDO Disease]
- Cone rod dystrophy [PASCAL descriptor]
- Cone-rod dystrophy [MedDRA Preferred Term]
- Cone/cone-rod dystrophy [HPO term]
- cone rod dystrophy [Disease (Nov.)]
- cone-rod dystrophy [DO Concept]
Validated automatic mappings to BTNT
- Progressive cone-rod dystrophy (disorder) [SNOMED CT concept]
- cone-rod dystrophy 2 [DO Concept]

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