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238049009: Carbohydrate-deficient glycoprotein syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
356828010 CDG - Carbohydrate-deficient glycoprotein syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3760400018 Congenital disorder of glycosylation en Synonym Active Entire term case insensitive SNOMED CT core 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
Carbohydrate-deficient glycoprotein syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Carbohydrate-deficient glycoprotein syndrome Finding site Body system structure false Inferred relationship Existential restriction modifier
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
Carbohydrate-deficient glycoprotein syndrome type II Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Carbohydrate-deficient glycoprotein syndrome type III Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Solute carrier family 35 member A1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Jarcho-Levin syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Seizures, scoliosis, macrocephaly syndrome Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency Is a True Carbohydrate-deficient glycoprotein syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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