Walker-Warburg Syndrome

Preferred Label : Walker-Warburg Syndrome;

NCIt synonyms : WWS; Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A;

NCIt related terms : Walker-Warburg Muscular Dystrophy;

CISMeF acronym : WWS;

NCIt definition : A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.;

Details

Origin ID

C99109;

UMLS CUI

C0265221;

Currated CISMeF NLP mapping
- Walker Warburg syndrome [Disease (Nov.)]
- Walker Warburg syndrome [ICD-11 More detail]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [MeSH concept]
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [PASCAL descriptor]
- Walker-Warburg syndrome [ORDO Disease]
- Walker-Warburg syndrome [DO Concept]
- Warburg syndrome (disorder) [SNOMED CT concept]
- warburg syndrome [SNOMED Notion]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt 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 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 [PASCAL descriptor]
- Walker-Warburg syndrome [DO Concept]
- Warburg syndrome (disorder) [SNOMED CT concept]
- warburg syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

Keyword's position in hierarchy(ies) :

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