Disorders of sphingolipid metabolism and other lipid storage disorders

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

ICD-10 exclusion note : Refsum's disease (G60.1); mucolipidosis, types I-III (E77.0-E77.1);

Rare : true;

Source : OMS;

Date de début : 01/01/1997;

Do not code with : true;

Details

Origin ID

E75;

UMLS CUI

C0494338;

Excluded by
- Other abnormal findings of blood chemistry [ICD-10 category]
ICD-10 exclusion(s)
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in post-translational modification of lysosomal enzymes [ICD-10 Sub-category]
- Refsum's disease [ICD-10 Sub-category]
Metaterm(s)
- genetics [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Liver disease due to disorders of lysosomal storage [ICD-11 Subcategory]

Keyword's position in hierarchy(ies) :

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