Sandhoff disease

Preferred Label : Sandhoff disease;

ICD-11 definition : Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration, with startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Patients may have a doll-like face, hepatosplenomegaly and recurring respiratory tract infections.;

ICD-11 synonym : Hexosaminidase A and B deficiency; GM sub 2 /sub gangliosidosis, type 2; Total hexosaminidase deficiency; GM2 gangliosidosis 0 variant; GM2 gangliosidosis type 2; GM 2 gangliosidosis, type 2;

Details

Origin ID

708581915;

UMLS CUI

C0036161;

Automatic exact mappings (from CISMeF team)
- Protein phosphatase 1, regulatory subunit 3a [OMIM gene]
- Sandhoff disease [MedDRA LLT]
Currated CISMeF NLP mapping
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [DO Concept]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease (disorder) [SNOMED CT concept]
- sandhoff disease [SNOMED Notion]
- sandhoff disease [MeSH concept]
- sandhoff disease [MeSH Descriptor]
- total hexosaminidase deficiency [MeSH concept]
False automatic mappings
- Glucose/galactose malabsorption [OMIM Phenotype]
- Gram [NCIt concept]
- The Gambia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [DO Concept]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [MedDRA LLT]
- Sandhoff disease (disorder) [SNOMED CT concept]
- sandhoff disease [MeSH Descriptor]
- sandhoff disease [MeSH concept]
- sandhoff disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Sandhoff disease, adult form [ORDO Disease]
- Sandhoff disease, infantile form [ORDO Disease]
- Sandhoff disease, juvenile form [ORDO Disease]
Validated automatic mappings to NTBT
- GM2 gangliosidosis [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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