57507002: Pentose disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Pentose disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

95626013 Pentose disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

796137010 Pentose disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6480331000241116 trouble du métabolisme des pentoses fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pentose disorder	Is a	Disorder of carbohydrate metabolism	true	Inferred relationship	Some
Pentose disorder	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Essential benign pentosuria	Is a	False	Pentose disorder	Inferred relationship	Some
Essential pentosuria	Is a	True	Pentose disorder	Inferred relationship	Some
A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	Is a	True	Pentose disorder	Inferred relationship	Some

This concept is not in any reference sets