Defects in glycoprotein degradation

Preferred Label : Defects in glycoprotein degradation;

Inclusion CIM-10 : Fucosidosis; Aspartylglucosaminuria; Mannosidosis; Sialidosis [mucolipidosis I];

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E771;

UMLS CUI

C0494342;

Automatic exact mappings (from CISMeF team)
- Mannosidosis [NCIt concept]
- Mannosidosis [PASCAL descriptor]
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidase deficiency diseases [MeSH Descriptor]
Currated CISMeF NLP mapping
- Aspartylglucosaminuria [OMIM Phenotype]
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [ORDO Disease]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Aspartylglycosaminuria [NCIt concept]
- Fucosidosis [NCIt concept]
- Fucosidosis [ORDO Disease]
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis (disorder) [SNOMED CT concept]
- aspartylglucosaminuria [MeSH concept]
- aspartylglucosaminuria [SNOMED Notion]
- aspartylglucosaminuria [MeSH Descriptor]
- aspartylglucosaminuria [DO Concept]
- fucosidosis [MeSH concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [DO Concept]
- fucosidosis, nos [SNOMED Notion]
DO Cross reference
- aspartylglucosaminuria [DO Concept]
- fucosidosis [DO Concept]
Excluded by
- Disorders of sphingolipid metabolism and other lipid storage disorders [ICD-10 category]
Orphanet concepts
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 3 [ORDO Disease]
- Alpha-mannosidosis [ORDO Disease]
- Alpha-mannosidosis, adult form [ORDO Disease]
- Alpha-mannosidosis, infantile form [ORDO Disease]
- Aspartylglucosaminuria [ORDO Disease]
- Beta-mannosidosis [ORDO Disease]
- Congenital sialidosis type 2 [ORDO Disease]
- Fucosidosis [ORDO Disease]
- Galactosialidosis [ORDO Disease]
- Glycoproteinosis [ORDO Disease]
- Juvenile sialidosis type 2 [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
- Sialidosis [ORDO Disease]
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Aspartylglucosaminuria [ICD-11 More detail]
- Fucosidosis [ICD-11 More detail]
- fucosidosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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