Infantile Krabbe disease

Preferred Label : Infantile Krabbe disease;

ICD-11 synonym : Early-onset Krabbe disease; Classic Krabbe disease;

Origin ID

999546344;

UMLS CUI

C0751273;

Currated CISMeF NLP mapping
- Early-Onset globoid cell leukodystrophy [MeSH concept]
- Galactocerebroside beta-galactosidase deficiency - early onset (disorder) [SNOMED CT concept]
- Globoid cell leukodystrophy, early onset (disorder) [SNOMED CT concept]
- Infantile Krabbe disease [ORDO Disease]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-Onset globoid cell leukodystrophy [MeSH concept]
- Galactocerebroside beta-galactosidase deficiency - early onset (disorder) [SNOMED CT concept]
- Globoid cell leukodystrophy, early onset (disorder) [SNOMED CT concept]
- Infantile Krabbe disease [ORDO Disease]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
Validated automatic mappings to NTBT
- Krabbe Disease [NCIt concept]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [ORDO Disease]
- Krabbe disease [DO Concept]
- Krabbe's disease [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]