Meckel-Gruber syndrome

ICD-11 code : LD2F.13;

Preferred Label : Meckel-Gruber syndrome;

ICD-11 definition : Meckel syndrome (MKS) is a monogenic disease characterized by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly., and a lethal course, with death occurring in the perinatal period.;

ICD-11 synonym : Meckel syndrome;

Details

Origin ID

695796893;

Automatic exact mappings (from CISMeF team)
- Cystic kidney disease, unspecified [ICD-10 Sub-category]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [DO Concept]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [OMIM phenotypic series]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel-Gruber Syndrome [NCIt concept]
- Meckel-Gruber syndrome (disorder) [SNOMED CT concept]
- RPGRIP1 like [HGNC gene]
- centrosomal protein 290 [HGNC gene]
- coiled-coil and C2 domain containing 2A [HGNC gene]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- meckel-gruber syndrome [SNOMED Notion]
- nephrocystin 3 [HGNC gene]
- tectonic family member 2 [HGNC gene]
ICD-10 Mapping
- Cystic kidney disease, unspecified [ICD-10 Sub-category]

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