733115009: congenitaal defect in glycosylering type 1y (aandoening)

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 1y

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Congenital disorder of glycosylation type 1y

\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 I\Congenital disorder of glycosylation type 1y

\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 1y

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

3498784013 Signal sequence receptor subunit 4 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498785014 Congenital disorder of glycosylation type Iy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498786010 SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498787018 Congenital disorder of glycosylation type 1y en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498788011 Carbohydrate deficient glycoprotein syndrome type Iy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498789015 Congenital disorder of glycosylation type 1y (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6117511000146119 congenitaal defect in glycosylering type 1y nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117521000146112 congenitaal defect in glycosylering type 1y (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117531000146114 CDG-1y nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117541000146118 koolhydraatdeficiënt glycoproteïne-syndroom type 1y nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117551000146115 SSR4-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117571000146111 CDG-syndroom type Iy nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12652381000146112 aangeboren defect in glycosylering type Iy nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3499983017 A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disorder of glycosylation type 1y	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Congenital disorder of glycosylation type 1y	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1y	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1y	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets