GM1 gangliosidosis

Preferred Label : GM1 gangliosidosis;

ICD-11 definition : GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.;

ICD-11 synonym : Landing disease;

Details

Origin ID

401105928;

UMLS CUI

C0085131;

Automatic exact mappings (from CISMeF team)
- GM1 gangliosidosis [MedDRA LLT]
Currated CISMeF NLP mapping
- GM1 Gangliosidosis [NCIt concept]
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis [PASCAL descriptor]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [Disease (Nov.)]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, GM1 [MeSH concept]
- gangliosidosis, GM1 [MeSH Descriptor]
- gm1 gangliosidosis, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 Gangliosidosis [NCIt concept]
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [MedDRA LLT]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- gangliosidosis, GM1 [MeSH Descriptor]
- gangliosidosis, GM1 [MeSH concept]
- gm1 gangliosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- GM1 gangliosidosis type 1 [ORDO Disease]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- infantile gm1 gangliosidosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Other gangliosidosis [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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