Multiple Sulfatase Deficiency Disease

Preferred Label : Multiple Sulfatase Deficiency Disease;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.;

Details

Origin ID

C84908;

UMLS CUI

C0268263;

CISMeF manual mappings
- mucosulfatidosis [DO Concept]
Currated CISMeF NLP mapping
- Mucosulfatidosis [ICD-11 More detail]
- Multiple sulfatase deficiency [OMIM Phenotype]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency disease [MeSH Descriptor]
- multiple sulfatase deficiency disease [MeSH concept]
- multiple sulfatase deficiency, nos [SNOMED Notion]
DO Cross reference
- mucosulfatidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucosulfatidosis [ICD-11 More detail]
- 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 concept]
- multiple sulfatase deficiency disease [MeSH Descriptor]
- multiple sulfatase deficiency, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SUMF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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