OMOP Concept 36715347
ALG8 congenital disorder of glycosylation
StandardConditionSNOMED720977000Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to ALG8 congenital disorder of glycosylation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535746 | Congenital disorder of glycosylation type 1H | Non-standard |
| Nebraska Lexicon | 720977000 | Asparagine-linked glycosylation 8 congenital disorder of glycosylation | Non-standard |
Synonyms
Alternative names recorded for ALG8 congenital disorder of glycosylation across source vocabularies.
- ALG8-CDG - asparagine-linked glycosylation 8 congenital disorder of glycosylation
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)
- Carbohydrate deficient glycoprotein syndrome type Ih
- Congenital disorder of glycosylation type 1h
- Congenital disorder of glycosylation type Ih
- Glucosyltransferase 2 deficiency
- trastorno congénito de glicosilación 8 vinculado a asparagina
- trastorno congénito de glicosilación 8 vinculado a asparagina (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
- 6Disorder of fetus and/or newborn
- 6Metabolic disease
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