waardenburg syndrome, type 4

Preferred Label : waardenburg syndrome, type 4;

MeSH note : Ws4; Ws4a not included;

MeSH synonym : Waardenburg-Shah syndrome; Waardenburg-Hirschsprung disease; hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; waardenburg syndrome, type iva; waardenburg syndrome, type 4a; waardenburg syndrome with hirschsprung disease, type 4a;

Details

Origin ID

C536467;

UMLS CUI

C1848519;

Automatic exact mappings (from CISMeF team)
- Hirschsprung disease with pigmentary anomaly [ICD-11 More detail]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-weber syndrome [OMIM Phenotype]
- Stuve-wiedemann syndrome 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 4 [NCIt concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg-Shah syndrome [ICD-11 Subcategory]
- Waardenburg-Shah syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hirschsprung disease [MeSH Descriptor]
- waardenburg syndrome [MeSH Descriptor]
Record concept(s)
- Waardenburg syndrome, type 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 4 [NCIt concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg-Shah syndrome [ORDO Disease]

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