771516000: congenitaal defect van glycosylering type 2m (aandoening)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)

\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 II\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type II	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Metabolic encephalopathy	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706585011	SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706586012	Congenital disorder of glycosylation type 2m	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706587015	Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706588013	Congenital disorder of glycosylation type IIm	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706589017	Solute carrier family 35 member A2 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706590014	CDG2M - congenital disorder of glycosylation type 2m	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6148451000146110	congenitaal defect van glycosylering type 2m	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148461000146113	congenitaal defect van glycosylering type 2m (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148471000146119	CDG2M	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148481000146117	CDG-syndroom type IIm	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148491000146115	SLC35A2-CDG	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3706591013	A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core