warburg syndrome - CISMeF

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CISMeF

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Warburg syndromeSNOMED Notion

Preferred Label : warburg syndrome;

Details

Origin ID

D4-00612;

UMLS CUI

C0265221;

Automatic exact mappings (from CISMeF team)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Walker Warburg syndrome [Disease (Nov.)]
- Walker Warburg syndrome [ICD-11 More detail]
- Walker-Warburg Syndrome [NCIt concept]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [MeSH concept]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [PASCAL descriptor]
- Walker-Warburg syndrome [ORDO Disease]
- Warburg syndrome (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other reduction deformities of brain [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Congenital muscular dystrophy due to glycosyltransferase anomaly [ORDO Disease]
- Congenital vitreoretinal dysplasia [ORDO Disease]
- Qualitative or quantitative defects of FKRP [ORDO Disease]
- Qualitative or quantitative defects of fukutin [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannosyltransferase 1 [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannosyltransferase 2 [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Warburg syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
- Walker Warburg syndrome [Disease (Nov.)]
- Walker-Warburg Syndrome [NCIt concept]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [MeSH concept]
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [ORDO Disease]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [PASCAL descriptor]
- Warburg syndrome (disorder) [SNOMED CT concept]

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24/04/2024

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