OMOP Concept 1245026
Xp21 deletion syndrome
StandardConditionSNOMED1295529002Disorder
Maps from
1
Descendants
0
Valid from
1 Dec 2023
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Xp21 deletion syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 297257004 | Glycerol kinase deficiency - contiguous gene syndrome | Non-standard |
Synonyms
Alternative names recorded for Xp21 deletion syndrome across source vocabularies.
- Complex GKD (complex glycerol kinase deficiency)
- Complex glycerol kinase deficiency
- deficiencia de glicerol quinasa compleja
- síndrome de deleción de genes contiguos Xp21
- síndrome de deleción Xp21
- síndrome de deleción Xp21 (trastorno)
- Xp21 contiguous gene deletion syndrome
- Xp21 deletion syndrome (disorder)
- Xp21 microdeletion syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(47)Roll up to these when you need a wider cohort.
- 1Anomaly of chromosome X
- 1Congenital hypoplasia of adrenal gland
- 1Deficiency of glycerol kinase
- 1Developmental hereditary disorder
- 1Hereditary disorder of endocrine system
- 1Inborn error of metabolism
- 2Adrenal cortical hypofunction
- 2Anomaly of sex chromosome
- 2Congenital anomaly of adrenal gland
- 2Congenital disease
- 2Deficiency of transferase
- 2Developmental disorder
- 2Disorder of endocrine system
- 2Disorder of glycerol metabolism
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary metabolic disease
- 3Anomaly of chromosome pair
- 3Congenital anomaly of abdomen
- 3Congenital anomaly of endocrine gland
- 3Disease
- 3Disorder of adrenal cortex
- 3Disorder of adrenal gland
- 3Disorder of body system
- 3Disorder of carbohydrate metabolism
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