Aspartylglycosaminuria

Preferred Label : Aspartylglycosaminuria;

NCIt synonyms : Aspartylglucosaminuria;

NCIt definition : A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.;

Details

Origin ID

C61273;

UMLS CUI

C0268225;

Currated CISMeF NLP mapping
- Aspartylglucosamidase (AGA) deficiency [MeSH concept]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [ICD-11 More detail]
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [OMIM Phenotype]
- Aspartylglucosaminuria [ORDO Disease]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- aspartylglucosamidase (AGA) deficiency [MeSH Supplementary Concept]
- aspartylglucosaminuria [DO Concept]
- aspartylglucosaminuria [MeSH Descriptor]
- aspartylglucosaminuria [MeSH concept]
- aspartylglucosaminuria [SNOMED Notion]
DO Cross reference
- aspartylglucosaminuria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [OMIM Phenotype]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- aspartylglucosaminuria [DO Concept]
- aspartylglucosaminuria [SNOMED Notion]
- aspartylglucosaminuria [MeSH Descriptor]
- aspartylglucosaminuria [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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