715733000: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Adrenogenital disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disorder 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\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\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\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 body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder 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 of adrenal gland\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\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 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 of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3303553012	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	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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