OMOP Concept 37163227
TMEM199 congenital disorder of glycosylation
StandardConditionSNOMED1208738002Disorder
Maps from
0
Descendants
0
Valid from
31 Mar 2022
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for TMEM199 congenital disorder of glycosylation across source vocabularies.
- Carbohydrate deficient glycoprotein syndrome type IIp
- CDG2P - trastorno congénito de la glicosilación tipo IIp
- CDG (congenital disorder of glycosylation) syndrome type IIp
- CDG-IIp - trastorno congénito de la glicosilación tipo IIp
- Congenital disorder of glycosylation type IIp
- síndrome CDG (trastorno congénito de glicosilación) tipo IIp
- TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation
- TMEM199-CDG (trastorno congénito de glicosilación de proteína transmembrana 199)
- Transmembrane protein 199 congenital disorder of glycosylation
- Transmembrane protein 199 congenital disorder of glycosylation (disorder)
- trastorno congénito de glicosilación de proteína transmembrana 199
- trastorno congénito de glicosilación de proteína transmembrana 199 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Carbohydrate-deficient glycoprotein syndrome type II
- 1Hypercholesterolemia
- 2Autosomal hereditary disorder
- 2Carbohydrate-deficient glycoprotein syndrome
- 2Hyperlipidemia
- 2Serum cholesterol above reference range
- 3Disorder of glycoprotein metabolism
- 3Disorder of lipoprotein storage and metabolism
- 3Hereditary disease
- 3Lipid above reference range
- 3Serum cholesterol outside reference range
- 3Serum lipids above reference range
- 4Blood substance level above reference range
- 4Disorder of lipoprotein AND/OR lipid metabolism
- 4Genetic disease
- 4Inborn error of metabolism
- 4Lipids outside reference range
- 4Measurement finding above reference range
- 4Serum cholesterol level - finding
- 4Serum lipid levels - finding
- 5Cholesterol level - finding
- 5Congenital disease
- 5Disease
- 5Finding of blood substance level
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