Metachromatic Leukodystrophy

Preferred Label : Metachromatic Leukodystrophy;

NCIt definition : An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.;

Codes from synonyms : E75.25;

Details

Origin ID

C61251;

UMLS CUI

C0023522;

Currated CISMeF NLP mapping
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [PASCAL descriptor]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [ORDO Disease]
- arylsulfatase A deficiency [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [Radlex concept]
DO Cross reference
- metachromatic leukodystrophy [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [OMIM Phenotype]
- 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 [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Metachromatic leukodystrophy, juvenile type (disorder) [SNOMED CT concept]
- metachromatic leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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
- ARSA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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