Hydroxyprolinemia

Preferred Label : Hydroxyprolinemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : 4-hydroxy-L-proline oxidase deficiency;

Description : Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.;

Inheritance : Autosomal recessive;

Prefixed ID : 237000;

Details

Origin ID

237000;

UMLS CUI

C0268531;

Currated CISMeF NLP mapping
- Hydroxyprolinaemia [MedDRA Preferred Term]
- Hydroxyprolinemia [HPO term]
- Hydroxyprolinemia [MedDRA LLT]
- Hyperhydroxyprolinaemia [ICD-11 More detail]
- Hyperhydroxyprolinemia (disorder) [SNOMED CT concept]
- hydroxyprolinemia [MeSH concept]
- hydroxyprolinemia [MeSH Supplementary Concept]
- hyperhydroxyprolinemia [SNOMED Notion]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hydroxyprolinemia [HPO term]
- Intellectual disability [HPO term]
- Microscopic hematuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydroxyprolinaemia [MedDRA Preferred Term]
- Hydroxyprolinemia [MedDRA LLT]
- Hydroxyprolinemia [HPO term]
- Hyperhydroxyprolinaemia [ICD-11 More detail]
- Hyperhydroxyprolinemia (disorder) [SNOMED CT concept]
- hydroxyprolinemia [MeSH Supplementary Concept]
- hydroxyprolinemia [MeSH concept]
- hyperhydroxyprolinemia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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