OMOP Concept 4195771
Cholesterol monooxygenase (side-chain cleaving) deficiency
StandardConditionSNOMED44231009Disorder
Maps from
2
Descendants
0
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 Cholesterol monooxygenase (side-chain cleaving) deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 145607 | Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency | Non-standard |
| MeSH | C537027 | Lipoid congenital adrenal hyperplasia | Non-standard |
Synonyms
Alternative names recorded for Cholesterol monooxygenase (side-chain cleaving) deficiency across source vocabularies.
- 20,22-Desmolase deficiency
- Cholesterol desmolase deficiency
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)
- Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism
- Defective synthesis of cholesterol desmolase
- deficiencia de 20, 22 - desmolasa
- deficiencia de colesterol desmolasa
- deficiencia de colesterol monooxigenasa (clivaje de cadena lateral)
- deficiencia de colesterol monooxigenasa (clivaje de cadena lateral) (trastorno)
- deficiencia de colesterol monooxigenasa (clivaje de la cadena lateral)
- hiperplasia lipoidea congénita de la corteza suprarrenal con pseudohermafroditismo masculino
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 steroid metabolism
- 3Fetal and/or neonatal disorder
- 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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