44231009: Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\...
• \Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble métabolique\Inborn error of metabolism\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble métabolique\Enzymopathy\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble métabolique\Disorder of steroid metabolism\Adrenal virilism\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble du développement\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\Cholesterol monooxygenase (side-chain cleaving) deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
493818018	Defective synthesis of cholesterol desmolase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
73761017	Cholesterol monooxygenase (side-chain cleaving) deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
73762012	Cholesterol desmolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
73763019	20,22-Desmolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
73764013	Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
781336012	Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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