Hypoascorbemia

Preferred Label : Hypoascorbemia;

CISMeF acronym : GULOP; SCURVY;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Vitamin C, inability to synthesize; SCURVY;

Included titles and symbols : L-gulonolactone oxidase pseudogene; L-gulonolactone oxidase, nonfunctional; Gulo, nonfunctional; GULOP;

Inheritance : Autosomal recessive;

Laboratory abnormalities : L-gulonolactone oxidase deficiency; Hypoascorbemia;

Prefixed ID : 240400;

Details

Origin ID

240400;

UMLS CUI

C0036474;

Automatic exact mappings (from CISMeF team)
- Ascorbic acid deficiency [ICD-10 category]
- Ascorbic acid deficiency (disorder) [SNOMED CT concept]
- L-Gulonolactone oxidase, nonfunctional [MeSH concept]
- L-Gulonolactone oxidase, nonfunctional [MeSH Supplementary Concept]
- Scurvy [ICD-11 Subcategory]
- Scurvy [MedDRA LLT]
- Vitamin C Deficiency [NCIt concept]
- scurvy [DO Concept]
- scurvy [MeSH Descriptor]
- scurvy [MeSH concept]
- scurvy [Radlex concept]
DO Cross reference
- scurvy [DO Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scurvy [MedDRA LLT]
- Vitamin C Deficiency [NCIt concept]
- scurvy [MeSH Descriptor]
- scurvy [MeSH concept]
- scurvy [DO Concept]

Keyword's position in hierarchy(ies) :

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