Code System Concept

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Code System Concept

Code System Concept Code	238049009
Code System Concept Name	Carbohydrate-deficient glycoprotein syndrome (disorder)
Code System Preferred Concept Name	Carbohydrate-deficient glycoprotein syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3036810012	Carbohydrate deficiency glycoprotein syndrome	Active	Synonym	false	false
3037759010	Carbohydrate deficient glycoprotein syndrome	Active	Synonym	false	false
356827017	Carbohydrate-deficient glycoprotein syndrome	Active	Synonym	false	false
356828010	CDG - Carbohydrate-deficient glycoprotein syndrome	Active	Synonym	false	false
3760400018	Congenital disorder of glycosylation	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Disorder of glycoprotein metabolism (disorder) {238045003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Carbohydrate-deficient glycoprotein syndrome (disorder) {238049009 , SNOMED-CT }

Parent/Child (Relationship Type)

Carbohydrate-deficient glycoprotein syndrome type I (disorder) {277893002 , SNOMED-CT } Carbohydrate-deficient glycoprotein syndrome type II (disorder) {277894008 , SNOMED-CT } Carbohydrate-deficient glycoprotein syndrome type III (disorder) {277895009 , SNOMED-CT } Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) {1172627007 , SNOMED-CT } Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) {770755007 , SNOMED-CT } Jarcho-Levin syndrome (disorder) {61367005 , SNOMED-CT } Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) {1234819007 , SNOMED-CT } Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) {785303004 , SNOMED-CT } Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) {773643006 , SNOMED-CT } Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) {1187623009 , SNOMED-CT } Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) {1172703004 , SNOMED-CT } Seizures, scoliosis, macrocephaly syndrome (disorder) {1187250005 , SNOMED-CT } Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) {723624008 , SNOMED-CT } Xylosyltransferase 1 congenital disorder of glycosylation (disorder) {773418007 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,