49013001: 17 alpha-Hydroxyprogesterone aldolase 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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\trouble métabolique\Enzymopathy\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\trouble métabolique\Disorder of steroid metabolism\Adrenal virilism\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia - desmolase deficiency (disorder)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)
• \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)\17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)

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
495287013	Defective synthesis of 17-20 desmolase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786645016	17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
81655014	17 alpha-Hydroxyprogesterone aldolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
81656010	Steroid 17,20-lyase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81657018	Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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