GM1 Gangliosidosis

Preferred Label : GM1 Gangliosidosis;

NCIt definition : An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.;

Details

Origin ID

C84739;

UMLS CUI

C0085131;

Automatic exact mappings (from CISMeF team)
- GM1 gangliosidosis [MedDRA LLT]
Currated CISMeF NLP mapping
- GM1 gangliosidosis [PASCAL descriptor]
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [Disease (Nov.)]
- GM1 gangliosidosis [ICD-11 More detail]
- GM1 gangliosidosis [ORDO Disease]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM1 gangliosidosis type 1 [ORDO Disease]
- GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Other and unspecified gangliosidosis [ICD-10 Sub-category]
- Other gangliosidosis [ICD-10 Sub-category (who)]
- gangliosidosis, GM1 [MeSH Descriptor]
- gangliosidosis, GM1 [MeSH concept]
- gm1 gangliosidosis, nos [SNOMED Notion]
DO Cross reference
- GM1 gangliosidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis [ACR pathology]
- GM1 gangliosidosis [DO Concept]
- GM1 gangliosidosis [ICD-11 More detail]
- GM1 gangliosidosis [MedDRA LLT]
- GM1 gangliosidosis (disorder) [SNOMED CT concept]
- GM>1< gangliosidosis (disorder) [Inactive SNOMED CT concept]
- gangliosidosis, GM1 [MeSH concept]
- gangliosidosis, GM1 [MeSH Descriptor]
- gm1 gangliosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GLB1 Gene [NCIt concept]
human_disease_maps_to_eo_disease
- Canine GM1-Gangliosidosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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