meckel syndrome type 1

Preferred Label : meckel syndrome type 1;

MeSH synonym : dysencephalia splachnocystica; meckel gruber syndrome; meckel syndrome type1; gruber syndrome; dysencephalia splanchnocystica; meckel syndrome; Meckel-Gruber syndrome; Meckel-Gruber syndrome, type 1; meckel syndrome, type 1;

Is substance : O;

Details

Origin ID

C536133;

UMLS CUI

C3714506;

Automatic exact mappings (from CISMeF team)
- Cystic kidney disease, unspecified [ICD-10 Sub-category]
- Cystic kidney disease, unspecified [ICD-10 Sub-category (who)]
- Meckel syndrome [OMIM phenotypic series]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- Nephrocystin 3-related Meckel-like syndrome (disorder) [SNOMED CT concept]
- RPGRIP1 like [HGNC gene]
- centrosomal protein 290 [HGNC gene]
- coiled-coil and C2 domain containing 2A [HGNC gene]
- nephrocystin 3 [HGNC gene]
- tectonic family member 2 [HGNC gene]
Currated CISMeF NLP mapping
- MKS transition zone complex subunit 1 [ORDO Gene]
- Meckel Gruber syndrome [Disease (Nov.)]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [DO Concept]
- Meckel syndrome 1 [DO Concept]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel-Gruber Syndrome [NCIt concept]
- Meckel-Gruber syndrome (disorder) [SNOMED CT concept]
- meckel-gruber syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- ciliary motility disorders [MeSH Descriptor]
- encephalocele [MeSH Descriptor]
- polycystic kidney diseases [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- Meckel syndrome type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MKS transition zone complex subunit 1 [ORDO Gene]
- Meckel syndrome, type 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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