GM1 gangliosidosis type 2

Preferred Label : GM1 gangliosidosis type 2;

ICD-11 definition : GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.;

ICD-11 synonym : Juvenile GM1 gangliosidosis;

Details

Origin ID

1132250614;

UMLS CUI

C0268272;

Currated CISMeF NLP mapping
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 2 [ORDO Disease]
- Gm1-gangliosidosis, type II [OMIM Phenotype]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
- juvenile gm1 gangliosidosis [SNOMED Notion]
See also inter- (CISMeF)
- Juvenile GM1 gangliosidosis [PASCAL descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis type 2 [DO Concept]
- GM1 gangliosidosis type 2 [ORDO Disease]
- Gm1-gangliosidosis, type II [OMIM Phenotype]
- Juvenile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 2 [MeSH concept]
- juvenile gm1 gangliosidosis [SNOMED Notion]
Validated automatic mappings to NTBT
- gangliosidosis, GM1 [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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