multiple sulfatase deficiency disease

Preferred Label : multiple sulfatase deficiency disease;

MeSH definition : An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.;

MeSH synonym : multiple sulfatase deficiencies; multiple sulfatase deficiency; mucosulfatidosis; multiple sulphatase deficiency disease;

MeSH hyponym : sulfatidosis, juvenile, austin type; Sulfatidosis Juvenile, Austin Type; Juvenile Sulfatidosis; Juvenile Sulfatidoses; Sulfatidoses, Juvenile; Sulfatidosis, Juvenile;

Wikipedia link : https://en.wikipedia.org/wiki/Mucosulfatidosis;

Details

Origin ID

D052517;

UMLS CUI

C0268263;

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]
Currated CISMeF NLP mapping
- Mucosulfatidosis [ICD-11 More detail]
- Multiple Sulfatase Deficiency Disease [NCIt concept]
- Multiple sulfatase deficiency [OMIM Phenotype]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- mucosulfatidosis [DO Concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency, nos [SNOMED Notion]
DO Cross reference
- mucosulfatidosis [DO Concept]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Record concept(s)
- multiple sulfatase deficiency disease [MeSH concept]
- sulfatidosis, juvenile, austin type [MeSH concept]
See also (suggested by CISMeF)
- sulfatases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucosulfatidosis [ICD-11 More detail]
- Multiple Sulfatase Deficiency Disease [NCIt concept]
- Multiple sulfatase deficiency [OMIM Phenotype]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency [LOINC component]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- mucosulfatidosis [DO Concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency, nos [SNOMED Notion]

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