Mowat-Wilson syndrome

Preferred Label : Mowat-Wilson syndrome;

MeSH note : Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease;

MeSH synonym : hirschsprung disease mental retardation syndrome; hirschsprung Disease-Mental retardation syndrome; microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease;

Details

Origin ID

C536990;

UMLS CUI

C1856113;

CISMeF manual mappings
- Mowat-Wilson syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Mowat-Wilson Syndrome [NCIt concept]
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome [ICD-11 More detail]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]
- Mowat-wilson syndrome [OMIM Phenotype]
DO Cross reference
- Mowat-Wilson syndrome [DO Concept]
Has phenotype(s) (HPO)
- Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel [HPO term]
- Fleshy upturned lobules [HPO term]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Mowat-Wilson syndrome [ORDO Disease]
Record concept(s)
- Mowat-Wilson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mowat-Wilson Syndrome [NCIt concept]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]
- Mowat-wilson syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients