Disorders of sphingolipid metabolism and other lipid storage disorders

Preferred Label : Disorders of sphingolipid metabolism and other lipid storage disorders;

Origin ID

E75;

Automatic exact mappings (from CISMeF team)
- Other specified or unknown endocrine, metabolic, nutritional diagnoses and diseases [ICPC-3 diagnosis]
Exclusion CIM-10
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Defects in post-translational modification of lysosomal enzymes [ICD-10 Sub-category (who)]
- Refsums disease [ICD-10 Sub-category (who)]
Exclusion(s) CIM-10
- Other abnormal findings of blood chemistry [ICD-10 category (who)]
Metaterm(s)
- genetics [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]