juvenile gm1 gangliosidosis

Preferred Label : juvenile gm1 gangliosidosis;

Origin ID

D6-76030;

UMLS CUI

C0268272;

Automatic exact mappings (from CISMeF team)
- Juvenile GM1 gangliosidosis [PASCAL descriptor]
- gangliosidosis, GM1 [MeSH Descriptor]
Currated CISMeF NLP mapping
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 2 [ICD-11 More detail]
- GM1 gangliosidosis type 2 [ORDO Disease]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
ICD-10 exact mapping(s)
- Other gangliosidosis [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- beta-galactosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis type 2 [ORDO Disease]
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 2 [ICD-11 More detail]
- Gm1-gangliosidosis, type II [OMIM Phenotype]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]