783696009: Hyperandrogenism due to cortisone reductase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Hyperandrogenism due to cortisone reductase deficiency

\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\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Hyperandrogenism due to cortisone reductase deficiency
\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\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\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\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\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\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Gynecological endocrinology disorder\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Hyperandrogenisation syndrome\Hyperandrogenism due to cortisone reductase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759756014 Hyperandrogenism due to cortisone reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759757017 Hyperandrogenism due to cortisone reductase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759758010 11-beta-hydroxysteroid dehydrogenase deficiency type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759759019 A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3759760012 A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhoea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. 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
Hyperandrogenism due to cortisone reductase deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Hyperandrogenism due to cortisone reductase deficiency	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Hyperandrogenism due to cortisone reductase deficiency	Is a	Adrenogenital disorder	true	Inferred relationship	Some
Hyperandrogenism due to cortisone reductase deficiency	Is a	Hyperandrogenisation syndrome	true	Inferred relationship	Some
Hyperandrogenism due to cortisone reductase deficiency	Finding site	Adrenal structure	true	Inferred relationship	Some	1
Hyperandrogenism due to cortisone reductase deficiency	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Hyperandrogenism due to cortisone reductase deficiency	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3759756014	Hyperandrogenism due to cortisone reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759757017	Hyperandrogenism due to cortisone reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759758010	11-beta-hydroxysteroid dehydrogenase deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759759019	A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759760012	A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhoea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core