49013001: 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\...
• \Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\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\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Metabolic disease\Enzymopathy\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Metabolic disease\Disorder of steroid metabolism\Adrenal virilism\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase 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
81655014	17 alpha-Hydroxyprogesterone aldolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (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
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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4549931000241115	déficit en 17-alpha-hydroxyprogestérone aldolase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424851001000115	Störung der Geschlechtsentwicklung 46,XY, durch testikulären 17,20-Desmolase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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