725078006: Congenital disorder of glycosylation type 1e (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\Congenital disorder of glycosylation type 1e (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type 1e (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3438287019 Congenital disorder of glycosylation type 1e (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3438288012 Congenital disorder of glycosylation type 1e en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3438289016 Carbohydrate deficient glycoprotein syndrome type Ie en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3438290013 Dolichol-phosphate-mannose synthase 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438291012 DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3438292017 Syndrome with characteristics of psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (in the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10726791000172116 syndrome des glycoprotéines déficientes en hydrates de carbone de type Ie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10726801000172115 anomalie congénitale de la glycosylation de type 1e fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10726811000172117 CDG1E (congenital disorder of glycosylation, type 1e) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4568531000172118 congenitaal defect in glycosylering type Ie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4568541000172113 CDG-syndroom type Ie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disorder of glycosylation type 1e (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1e (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1e (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
3438287019	Congenital disorder of glycosylation type 1e (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438288012	Congenital disorder of glycosylation type 1e	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438289016	Carbohydrate deficient glycoprotein syndrome type Ie	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438290013	Dolichol-phosphate-mannose synthase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438291012	DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438292017	Syndrome with characteristics of psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (in the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10726791000172116	syndrome des glycoprotéines déficientes en hydrates de carbone de type Ie	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10726801000172115	anomalie congénitale de la glycosylation de type 1e	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10726811000172117	CDG1E (congenital disorder of glycosylation, type 1e)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4568531000172118	congenitaal defect in glycosylering type Ie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4568541000172113	CDG-syndroom type Ie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)