prolidase deficiency

Preferred Label : prolidase deficiency;

MeSH definition : Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.;

MeSH synonym : deficiency, prolidase; prolidase deficiencies; deficiencies, prolidase; imidodipeptidase deficiency; deficiencies, imidodipeptidase; deficiency, imidodipeptidase; imidodipeptidase deficiencies; hyperimidodipeptiduria; hyperimidodipeptidurias;

Wikipedia link : https://en.wikipedia.org/wiki/Prolidase deficiency;

Details

Origin ID

D056732;

UMLS CUI

C0268532;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Hyperimidodipeptiduria [HPO term]
- Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) [SNOMED CT concept]
- prolidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of imidodipeptidase (disorder) [SNOMED CT concept]
- Deficiency of prolidase (disorder) [SNOMED CT concept]
- Prolidase Deficiency [NCIt concept]
- Prolidase deficiency [ICD-11 Sub-sub category]
- Prolidase deficiency [OMIM Phenotype]
- Prolidase deficiency [ORDO Disease]
- prolidase deficiency [Disease (Nov.)]
- 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]
Manual NTBT mappings (CISMeF)
- Disorder of peptide metabolism [ORDO Disease]
- Metabolic disease with skin involvement [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
ORDO relation(s)
- Prolidase deficiency [ORDO Disease]
Record concept(s)
- prolidase deficiency [MeSH concept]
See also inter- (CISMeF)
- Deficiency of proline dipeptidase (disorder) [SNOMED CT concept]
- proline dipeptidase [MeSH Supplementary 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 [NCIt concept]
- Prolidase deficiency [OMIM Phenotype]
- Prolidase deficiency [ORDO Disease]
- Prolidase deficiency [ICD-11 Sub-sub category]
- prolidase deficiency [Disease (Nov.)]
- prolidase deficiency [DO Concept]
- proline dipeptidase deficiency [SNOMED Notion]

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