717260007: Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein 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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Adrenogenital disorder\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \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\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5401535013	A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401536014	A severe form of congenital adrenal hyperplasia (CAH) characterised by severe adrenal insufficiency and sex reversal in males.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308868019	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308869010	Congenital lipoid adrenal hyperplasia due to STAR deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308870011	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5855321000241110	hyperplasie congénitale lipoïde des surrénales par déficit en protéine régulatrice de la synthèse hormonale des stéroïdes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855331000241112	hyperplasie congénitale lipoïde des surrénales par déficit en STAR (steroidogenic acute regulatory protein)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390421001000116	Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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