metachromatic leukodystrophy, nos

Preferred Label : metachromatic leukodystrophy, nos;

Details

Origin ID

D6-74400;

UMLS CUI

C0023522;

Automatic exact mappings (from CISMeF team)
- sulfatidosis [MeSH Descriptor]
- sulfatidosis [MeSH concept]
CISMeF manual mappings
- Pseudoarylsulfatase A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Arylsulfatase A deficiency (disorder) [SNOMED CT concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [PASCAL descriptor]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy, late infantile type (disorder) [SNOMED CT concept]
- arylsulfatase A deficiency [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy, infant [MeSH concept]
Has phenotype(s) (HPO)
- Adolescent onset [HPO term]
- Demyelination [HPO term]
- Poor school performance [HPO term]
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]
Référence SNOMED
- arylsulfatase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]
- Metachromatic leukodystrophy [PASCAL descriptor]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- leukodystrophy, metachromatic [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [DO Concept]
Validated automatic mappings to NTBT
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

Main resources

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