Mucosulfatidosis

Preferred Label : Mucosulfatidosis;

ICD-11 definition : Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterized by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leucodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichtyosis (steroid-sulfatase deficiency).;

ICD-11 synonym : Multiple sulfatase deficiency; Juvenile sulfatidose, Austin type; Austin disease;

Details

Origin ID

848083807;

UMLS CUI

C0268263;

Currated CISMeF NLP mapping
- Multiple Sulfatase Deficiency Disease [NCIt concept]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency [OMIM Phenotype]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- mucosulfatidosis [DO Concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency disease [MeSH Descriptor]
- multiple sulfatase deficiency disease [MeSH concept]
- multiple sulfatase deficiency, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 disease [MeSH Descriptor]
- multiple sulfatase deficiency disease [MeSH concept]
- multiple sulfatase deficiency, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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