color vision defects

Preferred Label : color vision defects;

MeSH definition : Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.;

MeSH synonym : vision defects, color; defects, color vision; defect, color vision; color vision defect; vision defect, color; color vision deficiency; Color Vision Deficiencies; Deficiencies, Color Vision; Deficiency, Color Vision; Vision Deficiencies, Color; Vision Deficiency, Color;

MeSH hyponym : color blindness, inherited; color blindness, blue; color blindness; color blindness, green; monochromatopsia; color blindness, acquired; achromatopsia; color blindness, Red-Green; color blindness, red; Blindness, Color; Acquired Color Blindness; Green Color Blindness; Inherited Color Blindness; Red Color Blindness; Protan Defect; Color Blindness, Red Green; Red-Green Color Blindness; Deutan Defect; Defect, Deutan; Achromatopsias; Blue Color Blindness; Tritan Defect;

Wikipedia link : https://en.wikipedia.org/wiki/Color vision defects;

Details

Origin ID

D003117;

UMLS CUI

C0009398;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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)
- Achromasia (morphologic abnormality) [SNOMED CT concept]
- Achromatopsia [ICD-9 code]
- Acquired Color Blindness [NCIt concept]
- Acquired color vision deficiency (disorder) [SNOMED CT concept]
- Blindness colour [MedDRA LLT]
- Color blindness [LOINC component]
- Color blindness NOS [MedDRA LLT]
- Color blindness acquired [MedDRA LLT]
- Color vision defect [HPO term]
- Colour blindness [UNESCO concept]
- Colour blindness acquired [MedDRA Preferred Term]
- Daltonism [MedDRA LLT]
- Daltonism (disorder) [SNOMED CT concept]
- Deutan defect [ICD-9 code]
- Deutan defect [MedDRA LLT]
- Deutan defect (disorder) [SNOMED CT concept]
- Deuteranomaly [PASCAL descriptor]
- Deuteranomaly [HPO term]
- Deuteranomaly [ICD-11 More detail]
- Dyschromatopsia [HPO term]
- Dyschromatopsia [MedDRA LLT]
- Monochromatism [PASCAL descriptor]
- Monochromatopsia [ICD-11 More detail]
- Protan defect [ICD-9 code]
- Protan defect [MedDRA LLT]
- Protan defect (disorder) [SNOMED CT concept]
- Protanomaly [PASCAL descriptor]
- Protanomaly [HPO term]
- Protanomaly [ICD-11 More detail]
- Protanopia [PASCAL descriptor]
- Protanopia [HPO term]
- Red-green colour blindness [ICD-11 More detail]
- Red-green colour blindness [MedDRA LLT]
- Red-green dyschromatopsia [HPO term]
- Reduced red-green discrimination (finding) [SNOMED CT concept]
- Tritan defect [ICD-11 More detail]
- Tritan defect [ICD-9 code]
- Tritan defect [MedDRA LLT]
- Tritan defect (disorder) [SNOMED CT concept]
- Tritanomaly [PASCAL descriptor]
- Tritanomaly [ICD-11 More detail]
- Tritanomaly [MedDRA LLT]
- Unified Atomic Mass Unit [NCIt concept]
- achromasia [SNOMED Notion]
- acquired color blindness [DO Concept]
- dalton [IUPAC Unit]
- dalton (qualifier value) [SNOMED CT concept]
- deutan defect [SNOMED Notion]
- eye/adnexa disease other [ICPC-2 Rubric]
- opsin 1, short wave sensitive [HGNC gene]
- protan defect [SNOMED Notion]
- red color blindness [DO Concept]
- tritan defect [SNOMED Notion]
Currated CISMeF NLP mapping
- Achromatopsia [PASCAL descriptor]
- Achromatopsia [NCIt concept]
- Achromatopsia [HPO term]
- Achromatopsia [ORDO Disease]
- Achromatopsia [MedDRA LLT]
- Achromatopsia (disorder) [SNOMED CT concept]
- BLINDNESS COLOUR [WHO-ART Preferred Term]
- Blindness color [MedDRA LLT]
- Blindness color total [MedDRA LLT]
- Blindness colour total [MedDRA LLT]
- Color Blindness [NCIt concept]
- Color blindness [MedDRA LLT]
- Color blindness (disorder) [SNOMED CT concept]
- Color vision deficiencies [ICD-10 Sub-category]
- Color vision deficiencies [ICD-9 code]
- Color vision deficiency (disorder) [SNOMED CT concept]
- Color-vision disease [ORDO Disease]
- Colour blindness [MedDRA Preferred Term]
- Colour blindness NOS [MedDRA LLT]
- Colour vision deficiencies [ICD-10 Sub-category (who)]
- DEFECTIVE COULOUR VISION [WHO-ART Included Term]
- Defective color vision [MedDRA LLT]
- Defective colour vision [MedDRA LLT]
- Dyschromatopsia [PASCAL descriptor]
- Dyschromatopsia [ICD-11 More detail]
- Dyschromatopsia [MedDRA Preferred Term]
- Impairment of colour vision [ICD-11 Category]
- Monochromacy [HPO term]
- Tritanopia [ORDO Disease]
- achromatopsia [DO Concept]
- achromatopsia [Disease (Nov.)]
- achromatopsia [SNOMED Notion]
- blue color blindness [DO Concept]
- color blindness [Disease (Nov.)]
- color blindness [DO Concept]
- color blindness [MedlinePlus Topic]
- color vision defects [Disease (Nov.)]
- color vision deficiency, nos [SNOMED Notion]
DO Cross reference
- achromatopsia [DO Concept]
- acquired color blindness [DO Concept]
- blue color blindness [DO Concept]
- color blindness [DO Concept]
- red color blindness [DO Concept]
- red-green color blindness [DO Concept]
HPO term
- Color vision defect [HPO term]
- Deuteranomaly [HPO term]
- Deuteranopia [HPO term]
- Monochromacy [HPO term]
- Protanomaly [HPO term]
- Protanopia [HPO term]
- Red-green dyschromatopsia [HPO term]
- Tritanomaly [HPO term]
Manual NTBT mappings (CISMeF)
- Channelopathy due to cyclic nucleotide-gated ion channels [ORDO Disease]
- Genetic vitreous-retinal disease [ORDO Disease]
- Syndromic myopia [ORDO Disease]
MedlinePlus topic(s)
- color blindness [MedlinePlus Topic]
Record concept(s)
- achromatopsia [MeSH concept]
- color blindness [MeSH concept]
- color blindness, Red-Green [MeSH concept]
- color blindness, acquired [MeSH concept]
- color blindness, blue [MeSH concept]
- color blindness, green [MeSH concept]
- color blindness, inherited [MeSH concept]
- color blindness, red [MeSH concept]
- color vision defects [MeSH concept]
- monochromatopsia [MeSH concept]
Related MeSH Supplementary Concept(s)
- achromatopsia 1 [MeSH Supplementary Concept]
- achromatopsia 2 [MeSH Supplementary Concept]
- achromatopsia 3 [MeSH Supplementary Concept]
- achromatopsia 4 [MeSH Supplementary Concept]
- achromatopsia 5 [MeSH Supplementary Concept]
- achromatopsia incomplete, X-linked [MeSH Supplementary Concept]
- blue cone monochromatism [MeSH Supplementary Concept]
- colorblindness, partial tritanomaly [MeSH Supplementary Concept]
See also
- color perception [MeSH Descriptor]
- retinal cone photoreceptor cells [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Color vision deficiencies [ICD-10 Sub-category]
- Color vision deficiency (disorder) [SNOMED CT concept]
- Color-vision disease [ORDO Disease]
- Colour vision deficiencies [ICD-10 Sub-category (who)]
- DEFECTIVE COULOUR VISION [WHO-ART Included Term]
- Defective color vision [MedDRA LLT]
- Defective colour vision [MedDRA LLT]
- color vision defects [Disease (Nov.)]
Validated automatic mappings to BTNT
- Inherited Color Blindness [NCIt concept]
- Protan defect (disorder) [SNOMED CT concept]
- acquired color blindness [Disease (Nov.)]
- blue color blindness [Disease (Nov.)]
- green color blindness [Disease (Nov.)]
- inherited color blindness [Disease (Nov.)]
- red color blindness [Disease (Nov.)]
- red green color blindness [Disease (Nov.)]
- red-green color blindness [DO Concept]

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