Carbohydrate deficient glycoprotein syndrome type 2a 724142005

SNOMED CT code

SNOMED code

724142005

name

Carbohydrate deficient glycoprotein syndrome type 2a

status

active

date introduced

2017-07-31

fully specified name(s)

Carbohydrate deficient glycoprotein syndrome type 2a (disorder)

synonyms

Carbohydrate deficient glycoprotein syndrome type 2a
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation

attributes - group1

Occurrence

Congenital 255399007

parents

Carbohydrate-deficient glycoprotein syndrome type II 277894008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Disorder of glycoprotein metabolism 238045003
Carbohydrate-deficient glycoprotein syndrome 238049009
Carbohydrate-deficient glycoprotein syndrome type II 277894008
Carbohydrate deficient glycoprotein syndrome type 2a 724142005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Carbohydrate deficient glycoprotein syndrome type 2a 724142005

ancestors

sorted most to least specific

Carbohydrate-deficient glycoprotein syndrome type II 277894008
Autosomal recessive hereditary disorder 85995004
Carbohydrate-deficient glycoprotein syndrome 238049009
Autosomal hereditary disorder 1899006
Disorder of glycoprotein metabolism 238045003
Inborn error of metabolism 86095007
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Hereditary disease 32895009
Metabolic disease 75934005
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

Inborn error of metabolism 86095007

Disorder of glycoprotein metabolism 238045003

Carbohydrate-deficient glycoprotein syndrome 238049009

Carbohydrate-deficient glycoprotein syndrome type II 277894008

Carbohydrate deficient glycoprotein syndrome type 2a 724142005

SNOMED CT code