OMOP Concept 37117773
Congenital disorder of glycosylation type 1q
StandardConditionSNOMED733601006Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Congenital disorder of glycosylation type 1q via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567328 | Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities | Non-standard |
Synonyms
Alternative names recorded for Congenital disorder of glycosylation type 1q across source vocabularies.
- Congenital disorder of glycosylation type 1q (disorder)
- Congenital disorder of glycosylation type Iq
- SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation
- trastorno congénito de glicosilación tipo 1q
- trastorno congénito de glicosilación tipo 1q (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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