732252005: Carbohydrate deficient glycoprotein syndrome type 2k (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3464819018	Carbohydrate deficient glycoprotein syndrome type 2k (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3464820012	Carbohydrate deficient glycoprotein syndrome type 2k	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3464821011	Carbohydrate deficient glycoprotein syndrome type IIk	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3464822016	Congenital disorder of glycosylation type 2k	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3464823014	Congenital disorder of glycosylation type IIk	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3464824015	TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3464825019	Transmembrane protein 165 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3464826018	A form of congenital disorders of N-linked glycosylation with characteristics of psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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