Sulfatase Deficiency

Preferred Label : Sulfatase Deficiency;

NCIt definition : An inherited, progressive neurodegenerative disorder caused by the lack of functional sulfatase leading to the accumulation and deposition of glycosaminoglycans in tissue.;

Codes from synonyms : E75.26;

Details

Origin ID

C197972;

UMLS CUI

C1283601;

Currated CISMeF NLP mapping
- Deficiency of sulfatase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of sulfatase (disorder) [SNOMED CT concept]
concept_is_in_subset
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients