leukodystrophy, metachromatic

Preferred Label : leukodystrophy, metachromatic;

MeSH definition : An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.;

MeSH synonym : metachromatic leukodystrophy; arylsulfatase a deficiency disease; Metachromatic Leukoencephalopathies; Cerebral sclerosis, Diffuse, Metachromatic Form; Metachromatic Leukoencephalopathy; Leukoencephalopathies, Metachromatic; Leukoencephalopathy, Metachromatic; leukodystrophies, metachromatic; metachromatic leukodystrophies; sulfatide lipidosis; lipidosis, sulfatide; cerebroside sulphatase deficiency disease;

MeSH hyponym : leukodystrophy, metachromatic, adult; arylsulfatase A deficiency; metachromatic leukodystrophy, infant; leukodystrophy, metachromatic, juvenile; Metachromatic Leukodystrophy, Adult-Type; Adult-Type Metachromatic Leukodystrophies; Adult-Type Metachromatic Leukodystrophy; Leukodystrophies, Adult-Type Metachromatic; Leukodystrophy, Adult-Type Metachromatic; Metachromatic Leukodystrophies, Adult-Type; Metachromatic Leukodystrophy, Adult Type; Metachromatic Leukodystrophy, Adult; Adult Metachromatic Leukodystrophies; Adult Metachromatic Leukodystrophy; Leukodystrophies, Adult Metachromatic; Leukodystrophy, Adult Metachromatic; Metachromatic Leukodystrophies, Adult; Infant Metachromatic Leukodystrophies; Infant Metachromatic Leukodystrophy; Metachromatic Leukodystrophies, Infant; Metachromatic Leukodystrophy, Late Infantile; Greenfield's Disease; Greenfield Disease; Metachromatic Leukodystrophy, Infant-Type; Infant-Type Metachromatic Leukodystrophies; Infant-Type Metachromatic Leukodystrophy; Metachromatic Leukodystrophies, Infant-Type; Metachromatic Leukodystrophy, Infant Type; Arylsulfatase A Deficiencies; Deficiencies, Arylsulfatase A; Deficiency, Arylsulfatase A; ARSA Deficiency; ARSA Deficiencies; Deficiencies, ARSA; Deficiency, ARSA; Cerebroside Sulfatase Deficiency; Cerebroside Sulfatase Deficiencies; Deficiencies, Cerebroside Sulfatase; Deficiency, Cerebroside Sulfatase; Sulfatase Deficiencies, Cerebroside; Sulfatase Deficiency, Cerebroside; Metachromatic Leukodystrophy, Juvenile-Type; Juvenile-Type Metachromatic Leukodystrophies; Juvenile-Type Metachromatic Leukodystrophy; Leukodystrophies, Juvenile-Type Metachromatic; Leukodystrophy, Juvenile-Type Metachromatic; Metachromatic Leukodystrophies, Juvenile-Type; Metachromatic Leukodystrophy, Juvenile Type; Metachromatic Leukodystrophy, Juvenile; Juvenile Metachromatic Leukodystrophies; Juvenile Metachromatic Leukodystrophy; Leukodystrophies, Juvenile Metachromatic; Leukodystrophy, Juvenile Metachromatic; Metachromatic Leukodystrophies, Juvenile;

Wikipedia link : https://en.wikipedia.org/wiki/Metachromatic leukodystrophy;

Details

Origin ID

D007966;

UMLS CUI

C0023522;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ARSA wt Allele [NCIt concept]
- Concentric sclerosis [ICD-11 More detail]
- Deficiency of arylsulfatase (disorder) [SNOMED CT concept]
- Deficiency of cerebroside-sulfatase (disorder) [SNOMED CT concept]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- deficiency of cerebroside-sulfatase [SNOMED Notion]
CISMeF manual mappings
- Pseudoarylsulfatase A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Arylsulfatase A deficiency (disorder) [SNOMED CT concept]
- Metachromatic Leukodystrophy [NCIt concept]
- 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]
- Metachromatic leukodystrophy, adult form [ORDO Disease]
- Metachromatic leukodystrophy, adult type (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy, juvenile form [ORDO Disease]
- Metachromatic leukodystrophy, juvenile type (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy, late infantile form [ORDO Disease]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy, adult type [SNOMED Notion]
- metachromatic leukodystrophy, juvenile type [SNOMED Notion]
- metachromatic leukodystrophy, nos [SNOMED Notion]
DO Cross reference
- metachromatic leukodystrophy [DO Concept]
Has phenotype(s) (HPO)
- Adolescent onset [HPO term]
- Demyelination [HPO term]
- Poor school performance [HPO term]
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]
MedlinePlus topic(s)
- leukodystrophies [MedlinePlus Topic]
ORDO relation(s)
- Metachromatic leukodystrophy [ORDO Disease]
Record concept(s)
- arylsulfatase A deficiency [MeSH concept]
- leukodystrophy, metachromatic [MeSH concept]
- leukodystrophy, metachromatic, adult [MeSH concept]
- leukodystrophy, metachromatic, juvenile [MeSH concept]
- metachromatic leukodystrophy, infant [MeSH concept]
Related MeSH Supplementary Concept(s)
- cerebral sclerosis, diffuse, scholz type [MeSH Supplementary Concept]
- combined saposin deficiency [MeSH Supplementary Concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
- metachromatic leukodystrophy, Adult-Onset, with normal arylsulfatase A [MeSH Supplementary Concept]
- pseudoarylsulfatase A deficiency [MeSH Supplementary Concept]
See also
- Cerebroside-Sulfatase [MeSH Descriptor]
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 [ORDO Disease]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]
- Metachromatic leukodystrophy [PASCAL descriptor]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Adult metachromatic leukodystrophy [ICD-11 More detail]
- Arylsulfatase A deficiency [ICD-11 More detail]
- Juvenile metachromatic leukodystrophy [ICD-11 More detail]
- Late infantile metachromatic leukodystrophy [ICD-11 More detail]
- Metachromatic leukodystrophy, late infantile type (disorder) [SNOMED CT concept]
- infant metachromatic leukodystrophy [Disease (Nov.)]

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