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238049009: Carbohydrate-deficient glycoprotein syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356828010 CDG - Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760400018 Congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356828010 CDG - Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760400018 Congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3409351001000116 Kongenitale Glykosylierungsstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6940921000241113 syndrome des glycoprotéines déficientes en glucides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6940931000241110 syndrome des glycoprotéines déficientes en hydrates de carbone fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6940921000241113 syndrome des glycoprotéines déficientes en glucides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6940931000241110 syndrome des glycoprotéines déficientes en hydrates de carbone fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409351001000116 Kongenitale Glykosylierungsstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

55 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate-deficient glycoprotein syndrome Is a Disorder of glycoprotein metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carbohydrate-deficient glycoprotein syndrome Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Carbohydrate-deficient glycoprotein syndrome type I Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome type II Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome type III Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Jarcho-Levin syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
POGLUT1-related limb girdle muscular dystrophy R21 Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
PGM3-related congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Limb girdle muscular dystrophy due to POMK deficiency Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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