718712005: Carbohydrate deficient glycoprotein syndrome type 1m (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1m (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carbohydrate deficient glycoprotein syndrome type 1m (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1m (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1m (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313081018 Carbohydrate deficient glycoprotein syndrome type 1m (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313103016 Carbohydrate deficient glycoprotein syndrome type 1m en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313106012 Carbohydrate deficient glycoprotein syndrome type Im en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313107015 CDG1M - carbohydrate deficient glycoprotein syndrome type 1m en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313156019 This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10010731000172114 syndrome des glycoprotéines déficientes en glucides de type 1m fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10010741000172119 syndrome des glycoprotéines déficientes en hydrates de carbone de type 1m fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10010751000172117 syndrome CDG (congenital disorders of glycosylation) de type 1m fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4221031000172116 CDG-syndroom type Im nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4221041000172111 congenitaal defect in glycosylering type Im nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313081018	Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313103016	Carbohydrate deficient glycoprotein syndrome type 1m	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313106012	Carbohydrate deficient glycoprotein syndrome type Im	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313107015	CDG1M - carbohydrate deficient glycoprotein syndrome type 1m	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313156019	This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10010731000172114	syndrome des glycoprotéines déficientes en glucides de type 1m	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10010741000172119	syndrome des glycoprotéines déficientes en hydrates de carbone de type 1m	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10010751000172117	syndrome CDG (congenital disorders of glycosylation) de type 1m	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4221031000172116	CDG-syndroom type Im	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4221041000172111	congenitaal defect in glycosylering type Im	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)