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 (disorder)\...
• \Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease 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 (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease 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 (disorder)
• \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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease 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 (disorder)
• \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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease 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 (disorder)
• \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\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)

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
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
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	Only initial character case insensitive (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	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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
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
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

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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