metachromatic leukodystrophy without arylsulfatase deficiency

Preferred Label : metachromatic leukodystrophy without arylsulfatase deficiency;

Origin ID

D6-74450;

UMLS CUI

C0268260;

Automatic exact mappings (from CISMeF team)
- Arylsulfatase deficiency without metachromatic leukodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [ORDO Disease]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Metachromatic leukodystrophy without arylsulfatase deficiency (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Metabolic disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
SNOMED CT concept
- Metachromatic leukodystrophy without arylsulfatase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic leukodystrophy without arylsulfatase deficiency (disorder) [SNOMED CT concept]