Sandhoff Disease

Preferred Label : Sandhoff Disease;

NCIt definition : An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangliosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.;

Codes from synonyms : E75.01;

Details

Origin ID

C85052;

UMLS CUI

C0036161;

Automatic exact mappings (from CISMeF team)
- Sandhoff disease [MedDRA LLT]
Currated CISMeF NLP mapping
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [DO Concept]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease [ICD-11 More detail]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease (disorder) [SNOMED CT concept]
- sandhoff disease [MeSH Descriptor]
- sandhoff disease [MeSH concept]
- sandhoff disease [SNOMED Notion]
- total hexosaminidase deficiency [MeSH concept]
DO Cross reference
- Sandhoff disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [OMIM Phenotype]
- Sandhoff disease [PASCAL descriptor]
- Sandhoff disease [DO Concept]
- Sandhoff disease [Disease (Nov.)]
- Sandhoff disease [ICD-11 More detail]
- Sandhoff disease [MedDRA LLT]
- Sandhoff disease (disorder) [SNOMED CT concept]
- sandhoff disease [SNOMED Notion]
- sandhoff disease [MeSH Descriptor]
- sandhoff disease [MeSH concept]
Validated automatic mappings to NTBT
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ICD-11 More detail]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- HEXB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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