49013001: 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\...
• \Adrenal hyperplasia\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\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\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\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\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\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\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\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\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 of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\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 of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\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 of abdomen\Disorder of abdomen\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 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 of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\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 of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\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 of abdominopelvic segment of trunk\Disorder of abdomen\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\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\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\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\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\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\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 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 of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\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 of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Disorder of trunk\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\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\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\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\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 anomaly\Congenital abnormality of lower limb and pelvic girdle\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 anomaly\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 anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency\17 alpha-Hydroxyprogesterone aldolase deficiency

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
786645016	17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
81655014	17 alpha-Hydroxyprogesterone aldolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
81656010	Steroid 17,20-lyase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
81657018	Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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