MMIH Syndrome - CISMeF

Preferred Label : MMIH Syndrome;

NCIt related terms : Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome; Megacystis, Microcolon, Hypoperistalsis Syndrome;

NCIt definition : A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.;

Details

Origin ID

C98982;

UMLS CUI

C1608393;

Automatic exact mappings (from CISMeF team)
- Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Berdon's syndrome [MedDRA Preferred Term]
- Megacystis microcolon intestinal hypoperistalsis syndrome [MeSH concept]
- Megacystis, microcolon, hypoperistalsis syndrome (disorder) [SNOMED CT concept]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [OMIM phenotypic series]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ACR pathology]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
DO Cross reference
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Berdon's syndrome [MedDRA Preferred Term]
- Megacystis microcolon intestinal hypoperistalsis syndrome [MeSH concept]
- Megacystis, microcolon, hypoperistalsis syndrome (disorder) [SNOMED CT concept]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [OMIM Phenotype]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
Validated automatic mappings to BTNT
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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