Meckel-Gruber Syndrome

Preferred Label : Meckel-Gruber Syndrome;

NCIt synonyms : Meckel Syndrome;

NCIt definition : A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations.;

Details

Origin ID

C98978;

UMLS CUI

C0265215;

Automatic exact mappings (from CISMeF team)
- Cystic kidney disease, unspecified [ICD-10 Sub-category (who)]
- Cystic kidney disease, unspecified [ICD-10 Sub-category]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- MKS transition zone complex subunit 1 [ORDO Gene]
- Meckel Gruber syndrome [Disease (Nov.)]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [DO Concept]
- Meckel syndrome 1 [DO Concept]
- Meckel syndrome type 1 [MeSH concept]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel-Gruber syndrome (disorder) [SNOMED CT concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- meckel-gruber syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome [ORDO Disease]
- Meckel-Gruber syndrome (disorder) [SNOMED CT concept]
- meckel-gruber syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- 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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