Arterial Calcification due to Deficiency of CD73

Preferred Label : Arterial Calcification due to Deficiency of CD73;

NCIt synonyms : ACDC; CALJA;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the NT5E gene, encoding 5'-nucleotidase. Deficiency in this enzyme (also know as CD73 antigen) results in arterial calcification of the lower extremities, and the joints affecting the hands and feet.;

Details

Origin ID

C201591;

UMLS CUI

C1859372;

Automatic exact mappings (from CISMeF team)
- 5'-nucleotidase ecto [ORDO Gene]
- Adipocyte-, c1q-, and collagen domain-containing [OMIM gene]
Currated CISMeF NLP mapping
- Calcification of joints and arteries [OMIM Phenotype]
- Hereditary arterial and articular multiple calcification syndrome [ORDO Disease]
- Hereditary arterial and articular multiple calcification syndrome (disorder) [SNOMED CT concept]
- calcification of joints and arteries [Disease (Nov.)]
- calcification of joints and arteries [MeSH Supplementary Concept]
- calcification of joints and arteries [MeSH concept]
- hereditary arterial and articular multiple calcification syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Calcification of joints and arteries [OMIM Phenotype]
- Hereditary arterial and articular multiple calcification syndrome (disorder) [SNOMED CT concept]
- calcification of joints and arteries [MeSH Supplementary Concept]
- calcification of joints and arteries [MeSH concept]
- calcification of joints and arteries [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NT5E Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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