dysmorphic sialidosis with renal involvement

Preferred Label : dysmorphic sialidosis with renal involvement;

Origin ID

D6-72628;

UMLS CUI

C0268232;

Automatic exact mappings (from CISMeF team)
- Nephrosialidosis [PASCAL descriptor]
Currated CISMeF NLP mapping
- Dysmorphic sialidosis with renal involvement (disorder) [SNOMED CT concept]
- nephrosialidosis [MeSH concept]
- nephrosialidosis [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- sialidase [SNOMED Notion]
SNOMED CT concept
- Dysmorphic sialidosis with renal involvement (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysmorphic sialidosis with renal involvement (disorder) [SNOMED CT concept]
- Nephrosialidosis [OMIM Phenotype]
- nephrosialidosis [MeSH Supplementary Concept]
- nephrosialidosis [MeSH concept]