Tritanopia - CISMeF

Preferred Label : Tritanopia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Blue colorblindness; CBT; Colorblindness, tritanopic; Colorblindness, tritan;

Description : Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).;

Inheritance : Autosomal dominant (7q31.3-q32);

Prefixed ID : #190900;

Détails

Origin ID

190900;

UMLS CUI

C0155017;

Automatic exact mappings (from CISMeF team)
- Cognitive Behavior Therapy [NCIt concept]
- Tritan defect [MedDRA LLT]
- Tritanopia [PASCAL descriptor]
- Tritanopia [ICD-11 More detail]
- opsin 1, short wave sensitive [ORDO Gene]
Currated CISMeF NLP mapping
- Color vision deficiencies [ICD-10 Sub-category]
- Colour vision deficiencies [ICD-10 Sub-category (who)]
- Tritanopia [ORDO Disease]
- Tritanopia (disorder) [SNOMED CT concept]
- blue color blindness [Disease (Nov.)]
- blue color blindness [DO Concept]
- color blindness, blue [MeSH concept]
- tritanopia [SNOMED Notion]
DO Cross reference
- blue color blindness [DO Concept]
Genes related to phenotype
- Opsin 1, short-wave-sensitive [OMIM gene]
HPO term(s)
- Abnormal light-adapted electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Color vision defect [HPO term]
- Dyschromatopsia [HPO term]
- Tritanomaly [HPO term]
ORDO concept(s)
- Tritanopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tritan defect [MedDRA LLT]
- Tritan defect [ICD-9 code]
- Tritan defect (disorder) [SNOMED CT concept]
- Tritanomaly [HPO term]
- Tritanomaly [MedDRA LLT]
- Tritanopia [ORDO Disease]
- Tritanopia [MedDRA LLT]
- Tritanopia (disorder) [SNOMED CT concept]
- blue color blindness [DO Concept]
- blue color blindness [Disease (Nov.)]
- color blindness, blue [MeSH concept]
- tritan defect [SNOMED Notion]
- tritanopia [SNOMED Notion]

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