717260007: Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\...
• \Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Adrenogenital disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308868019	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308869010	Congenital lipoid adrenal hyperplasia due to STAR deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308870011	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3308871010	One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core
3308872015	One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilised and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycaemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	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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