choroideremia - CISMeF

Preferred Label : choroideremia;

MeSH definition : An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.;

MeSH synonym : choroideremias; tapetochoroidal dystrophy, progressive; progressive tapetochoroidal dystrophy; dystrophies, progressive tapetochoroidal; dystrophy, progressive tapetochoroidal; progressive tapetochoroidal dystrophies; tapetochoroidal dystrophies, progressive;

MeSH annotation : of the eye, not of the choroid plexus: progressive degen in male, nonprogressive in female;

Wikipedia link : https://en.wikipedia.org/wiki/Choroideremia;

Details

Origin ID

D015794;

UMLS CUI

C0008525;

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]
Currated CISMeF NLP mapping
- Choroideraemia [MedDRA LLT]
- Choroideremia [PASCAL descriptor]
- Choroideremia [ICD-11 More detail]
- Choroideremia [ICD-9 code]
- Choroideremia [NCIt concept]
- Choroideremia [OMIM Phenotype]
- Choroideremia [HPO term]
- Choroideremia [ORDO Disease]
- Choroideremia [MedDRA LLT]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [Disease (Nov.)]
- choroideremia [DO Concept]
- choroideremia [SNOMED Notion]
DO Cross reference
- choroideremia [DO Concept]
HPO term
- Choroideremia [HPO term]
Manual NTBT mappings (CISMeF)
- Unclassified familial retinal dystrophy [ORDO Disease]
ORDO relation(s)
- Choroideremia [ORDO Disease]
Record concept(s)
- choroideremia [MeSH concept]
Related MeSH Supplementary Concept(s)
- ayazi syndrome [MeSH Supplementary Concept]
- van den bosch syndrome [MeSH Supplementary Concept]
See also
- night blindness [MeSH Descriptor]
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 [ICD-9 code]
- Choroideremia [PASCAL descriptor]
- Choroideremia [NCIt concept]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [SNOMED Notion]
- choroideremia [DO Concept]
- choroideremia [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hereditary choroidal dystrophy [ICD-10 Sub-category]
- Hereditary choroidal dystrophy [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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