Prolidase Deficiency

Preferred Label : Prolidase Deficiency;

NCIt definition : A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.;

Details

Origin ID

C85029;

UMLS CUI

C0268532;

Automatic exact mappings (from CISMeF team)
- prolidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Prolidase deficiency [ICD-11 Sub-sub category]
- Prolidase deficiency [OMIM Phenotype]
- Prolidase deficiency [ORDO Disease]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [MeSH Descriptor]
- prolidase deficiency [MeSH concept]
- proline dipeptidase deficiency [SNOMED Notion]
DO Cross reference
- prolidase deficiency [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of imidodipeptidase (disorder) [SNOMED CT concept]
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
- Prolidase deficiency [ORDO Disease]
- Prolidase deficiency [OMIM Phenotype]
- Prolidase deficiency [ICD-11 Sub-sub category]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [DO Concept]
- prolidase deficiency [MeSH concept]
- prolidase deficiency [MeSH Descriptor]
- proline dipeptidase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEPD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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