ataxia-telangiectasia syndrome - CISMeF

CISMeF

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Ataxia-telangiectasia syndromeSNOMED Notion

Preferred Label : ataxia-telangiectasia syndrome;

Details

Origin ID

D4-00613;

UMLS CUI

C0004135;

Automatic exact mappings (from CISMeF team)
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [Radlex concept]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
ICD-10 exact mapping(s)
- Cerebellar ataxia with defective DNA repair [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Autosomal recessive cerebellar ataxia due to a DNA repair defect [ORDO Disease]
- Conjunctival telangiectasia [ORDO Disease]
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Genetic skin vascular disorder [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Oculomotor apraxia [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Skin vascular disease [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Radlex concept]
- ataxia telangiectasia [MedlinePlus Topic]

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18/05/2024

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