Choroideremia - CISMeF

Preferred Label : Choroideremia;

NCIt synonyms : Progressive Choroidal Atrophy;

NCIt definition : A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.;

Details

Origin ID

C34469;

UMLS CUI

C0008525;

Automatic exact mappings (from CISMeF team)
- Hereditary choroidal dystrophy [ICD-10 Sub-category (who)]
- Hereditary choroidal dystrophy [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Choroideraemia [MedDRA LLT]
- Choroideremia [PASCAL descriptor]
- Choroideremia [ICD-11 More detail]
- Choroideremia [ICD-9 code]
- Choroideremia [HPO term]
- Choroideremia [OMIM Phenotype]
- Choroideremia [ORDO Disease]
- Choroideremia [MedDRA LLT]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [Disease (Nov.)]
- choroideremia [DO Concept]
- choroideremia [MeSH Descriptor]
- choroideremia [MeSH concept]
- choroideremia [SNOMED Notion]
DO Cross reference
- choroideremia [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choroideraemia [MedDRA LLT]
- Choroideremia [ORDO Disease]
- Choroideremia [OMIM Phenotype]
- Choroideremia [MedDRA LLT]
- Choroideremia [HPO term]
- Choroideremia [PASCAL descriptor]
- Choroideremia [ICD-9 code]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [DO Concept]
- choroideremia [Disease (Nov.)]
- choroideremia [MeSH concept]
- choroideremia [MeSH Descriptor]
- choroideremia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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