OMOP Concept 43020878
Congenital disorder of glycosylation type Ia
StandardConditionSNOMED459063003Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2013
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital disorder of glycosylation type Ia across source vocabularies.
- Carbohydrate deficient glycoprotein syndrome type Ia
- Congenital disorder of glycosylation type 1a
- Congenital disorder of glycosylation type Ia (disorder)
- PMM2-CDG (congenital disorder of glycosylation)
- PMM2-TCG (trastorno congénito de la glucosilación)
- síndrome de glucoproteína deficiente en carbohidratos tipo Ia
- trastorno congénito de la glucosilación tipo Ia
- trastorno congénito de la glucosilación tipo Ia (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Carbohydrate-deficient glycoprotein syndrome type I
- 2Autosomal hereditary disorder
- 2Carbohydrate-deficient glycoprotein syndrome
- 3Disorder of glycoprotein metabolism
- 3Hereditary disease
- 4Genetic disease
- 4Inborn error of metabolism
- 5Congenital disease
- 5Disease
- 5Hereditary metabolic disease
- 6Clinical finding
- 6Fetal and/or neonatal disorder
- 6Metabolic disease
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