124251001: Deficiency of transketolase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency (disorder)\Deficiency of transferase\Deficiency of transketolase (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

203847014 Deficiency of glycoaldehydetransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203848016 Deficiency of transketolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727801015 Deficiency of transketolase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3801801000005119 transketolasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of transketolase (disorder)	Is a	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of transketolase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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).	Due to	True	Deficiency of transketolase (disorder)	Inferred relationship	Some	5

This concept is not in any reference sets