715733000: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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
3303552019	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303553012	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401061019	A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401062014	A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterised by glucocorticoid deficiency, virilisation of external genitalia in females, and undervirilisation in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303552019	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303553012	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303554018	A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303555017	A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401061019	A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401062014	A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterised by glucocorticoid deficiency, virilisation of external genitalia in females, and undervirilisation in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388431001000119	Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
965211000172118	déficit en POR	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967491000172118	hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
965211000172118	déficit en POR	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967491000172118	hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388431001000119	Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-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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