globoid cell leukodystrophy, early onset - CISMeF

" /> globoid cell leukodystrophy, early onset - CISMeF

CISMeF

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Globoid cell leukodystrophy, early onsetSNOMED Notion

Preferred Label : globoid cell leukodystrophy, early onset;

Details

Origin ID

D6-74200;

UMLS CUI

C0751273;

Currated CISMeF NLP mapping
- Early-Onset globoid cell leukodystrophy [MeSH concept]
- Galactocerebroside beta-galactosidase deficiency - early onset (disorder) [SNOMED CT concept]
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Globoid cell leukodystrophy, early onset (disorder) [SNOMED CT concept]
- Infantile Krabbe disease [ICD-11 More detail]
- Infantile Krabbe disease [ORDO Disease]
- Krabbe Disease [NCIt concept]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [DO Concept]
- Krabbe disease [LOINC component]
- Krabbe disease [ORDO Disease]
- Krabbe disease [OMIM Phenotype]
- Krabbe's disease [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Infantile Krabbe disease [ORDO Disease]
- Late-infantile/juvenile Krabbe disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- beta-galactosidase [SNOMED Notion]
- congenital deficiency, nos [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]
- Infantile Krabbe disease [ICD-11 More detail]
Validated automatic mappings to NTBT
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]

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24/05/2025

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