GM1 gangliosidosis type 1

Preferred Label : GM1 gangliosidosis type 1;

ICD-11 definition : GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.;

ICD-11 synonym : Generalised gangliosidosis; Infantile GM1 gangliosidosis;

Details

Origin ID

466200180;

UMLS CUI

C0268271;

Currated CISMeF NLP mapping
- GM1 gangliosidosis [PASCAL descriptor]
- GM1 gangliosidosis type 1 [DO Concept]
- GM1 gangliosidosis type 1 [ORDO Disease]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
- infantile gm1 gangliosidosis [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
- infantile gm1 gangliosidosis [SNOMED Notion]
Validated automatic mappings to NTBT
- gangliosidosis, GM1 [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients