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\...

\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)

\Adrenogenital disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)

\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)

\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Developmental 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 (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Due to	Cytochrome p450 enzyme deficiency (disorder)	true	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Some
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Associated morphology	Congenital hyperplasia	false	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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