OMOP Concept 4169253
17 alpha-Hydroxyprogesterone aldolase deficiency
StandardConditionSNOMED49013001Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to 17 alpha-Hydroxyprogesterone aldolase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 150983 | 17 alpha-hydroxyprogesterone aldolase deficiency | Non-standard |
| Nebraska Lexicon | 49013001 | Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency | Non-standard |
| Read | C152500 | Defective synthesis of 17-20 desmolase | Non-standard |
Synonyms
Alternative names recorded for 17 alpha-Hydroxyprogesterone aldolase deficiency across source vocabularies.
- 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
- Defective synthesis of 17-20 desmolase
- deficiencia de 17 alfa - hidroxiprogesterona aldolasa
- deficiencia de 17 alfa - hidroxiprogesterona aldolasa (trastorno)
- deficiencia de esteroide 17, 20 liasa
- Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency
- pseudohermafroditismo masculino por deficiencia de 17, 20 - desmolasa testicular
- Steroid 17,20-lyase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(43)Roll up to these when you need a wider cohort.
- 1CAH - desmolase deficiency
- 1Enzymopathy
- 1Inborn error of metabolism
- 2Adrenal virilism
- 2Congenital adrenal hyperplasia
- 2Congenital disease
- 2Hereditary metabolic disease
- 2Metabolic disease
- 3Adrenocortical hyperplasia
- 3Adrenogenital disorder
- 3Autosomal recessive hereditary disorder
- 3Congenital anomaly of adrenal gland
- 3Developmental hereditary disorder
- 3Disease
- 3Disorder of fetus and/or newborn
- 3Disorder of steroid metabolism
- 3Hereditary disease
- 3Hereditary disorder of endocrine system
- 4Adrenal hyperplasia
- 4Autosomal hereditary disorder
- 4Clinical finding
- 4Congenital anomaly of abdomen
- 4Congenital anomaly of endocrine gland
- 4Developmental disorder
- 4Disorder of adrenal cortex
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