OMOP Concept 4079878
Carbohydrate-deficient glycoprotein syndrome
StandardConditionSNOMED238049009Disorder
Maps from
2
Descendants
57
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Carbohydrate-deficient glycoprotein syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 146470 | Carbohydrate-deficient glycoprotein syndrome | Non-standard |
| MeSH | D018981 | Congenital Disorders of Glycosylation | Non-standard |
Synonyms
Alternative names recorded for Carbohydrate-deficient glycoprotein syndrome across source vocabularies.
- Carbohydrate deficiency glycoprotein syndrome
- Carbohydrate deficient glycoprotein syndrome
- Carbohydrate-deficient glycoprotein syndrome (disorder)
- CDG - Carbohydrate-deficient glycoprotein syndrome
- Congenital disorder of glycosylation
- síndrome de la glucoproteína deficiente en carbohidratos
- síndrome de la glucoproteína deficiente en carbohidratos (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(10)Roll up to these when you need a wider cohort.
Narrower concepts
(57)Included automatically when you query with descendants.
- 1Carbohydrate-deficient glycoprotein syndrome type I
- 1Carbohydrate-deficient glycoprotein syndrome type II
- 1Carbohydrate-deficient glycoprotein syndrome type III
- 1Early-onset epilepsy, intellectual disability, brain anomalies syndrome
- 1Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
- 1Jarcho-Levin syndrome
- 1Limb girdle muscular dystrophy due to POMK deficiency
- 1Multiple congenital anomalies, hypotonia, seizures syndrome
- 1Multiple congenital anomalies, hypotonia, seizures syndrome type 2
- 1PGM3-related congenital disorder of glycosylation
- 1POGLUT1-related limb girdle muscular dystrophy R21
- 1Seizures, scoliosis, macrocephaly syndrome
- 1SLC35A1 congenital disorder of glycosylation
- 1XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
- 2ALG12-congenital disorder of glycosylation
- 2ALG1 congenital disorder of glycosylation
- 2ALG3 congenital disorder of glycosylation
- 2ALG8 congenital disorder of glycosylation
- 2ALG9 congenital disorder of glycosylation
- 2CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
- 2Carbohydrate deficient glycoprotein syndrome type 1m
- 2Carbohydrate deficient glycoprotein syndrome type 1o
- 2Carbohydrate deficient glycoprotein syndrome type 2a
- 2Carbohydrate deficient glycoprotein syndrome type 2d
- 2Carbohydrate deficient glycoprotein syndrome type 2k
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