715733000: hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\...
• \Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\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\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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
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
748401000241115	hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
965211000172118	déficit en POR	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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