Defects in post-translational modification of lysosomal enzymes

Preferred Label : Defects in post-translational modification of lysosomal enzymes;

Inclusion CIM-10 : Mucolipidosis III [pseudo-Hurler polydystrophy]; Mucolipidosis II [I-cell disease];

Diag associé à un acte (%) : 44.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E770;

UMLS CUI

C0342845;

Currated CISMeF NLP mapping
- Defect in post-translational modification of lysosomal enzymes (disorder) [SNOMED CT concept]
Excluded by
- Disorders of sphingolipid metabolism and other lipid storage disorders [ICD-10 category]
Orphanet concepts
- Glycoproteinosis [ORDO Disease]
- Mucolipidosis type II [ORDO Disease]
- Mucolipidosis type III [ORDO Disease]
- Mucolipidosis type III alpha/beta [ORDO Disease]
- Mucolipidosis type III gamma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Defect in post-translational modification of lysosomal enzymes (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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