Krabbe Disease

Preferred Label : Krabbe Disease;

NCIt synonyms : Globoid Cell Leukodystrophy; Galactosylceramide Lipidosis;

NCIt related terms : Galactosylceramide Beta-Galactosidase Deficiency;

NCIt definition : A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.;

Codes from synonyms : E75.23;

Details

Origin ID

C61254;

UMLS CUI

C0023521;

Automatic exact mappings (from CISMeF team)
- Galactosylceramide lipidosis [MedDRA LLT]
- galactosylceramidase [ORDO Gene]
- galactosylceramidase [HGNC gene]
Currated CISMeF NLP mapping
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Globoid cell leukodystrophy, early onset (disorder) [SNOMED CT concept]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [LOINC component]
- Krabbe disease [DO Concept]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [ORDO Disease]
- Krabbe's disease [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]
DO Cross reference
- Krabbe disease [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Galactosylceramide lipidosis [MedDRA LLT]
- Krabbe disease [LOINC component]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [ORDO Disease]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [DO Concept]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe's disease [MedDRA Preferred Term]
- leukodystrophy, globoid cell [MeSH concept]
- leukodystrophy, globoid cell [MeSH Descriptor]
Validated automatic mappings to BTNT
- Infantile Krabbe disease [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]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GALC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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