Prolidase deficiency

ICD-11 code : 5C50.F0;

Preferred Label : Prolidase deficiency;

ICD-11 definition : Prolidase deficiency is a very rare inborn error of metabolism characterized by mild to severe skin lesions particularly on the face, palms, lower legs and soles, together with other variable features.;

ICD-11 synonym : Imidodipeptiduria; Proline dipeptidase deficiency; Hyperimidodipeptiduria;

Details

Origin ID

1416203271;

UMLS CUI

C0268532;

Automatic exact mappings (from CISMeF team)
- Hyperimidodipeptiduria [HPO term]
- prolidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Prolidase Deficiency [NCIt concept]
- Prolidase deficiency [ORDO Disease]
- Prolidase deficiency [OMIM Phenotype]
- prolidase deficiency [MeSH concept]
- prolidase deficiency [MeSH Descriptor]
- prolidase deficiency [Disease (Nov.)]
ICD-10 Mapping
- Other specified disorders of amino-acid metabolism [ICD-10 Sub-category]
See also inter- (CISMeF)
- Deficiency of imidodipeptidase (disorder) [SNOMED CT concept]
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
- Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) [SNOMED CT concept]
- proline dipeptidase deficiency [SNOMED Notion]
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]
- Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) [SNOMED CT concept]
- Prolidase Deficiency [NCIt concept]
- Prolidase deficiency [OMIM Phenotype]
- Prolidase deficiency [ORDO Disease]
- prolidase deficiency [MeSH Descriptor]
- prolidase deficiency [MeSH concept]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [DO Concept]
- proline dipeptidase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorder of amino acid and organic acid metabolism (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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