50658006: Testosterone 17-beta-dehydrogenase deficiency (disorder)

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

\Finding by site\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\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\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Finding of abdominal segment of trunk\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\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\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Finding of body region\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\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\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\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Finding by site\Disorder by body site (disorder)\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\Testosterone 17-beta-dehydrogenase deficiency

\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\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\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\Disorder of trunk (disorder)\Disorder of abdominal segment of trunk (disorder)\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Disorder by body site (disorder)\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\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Metabolic disease\Inborn error of metabolism\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Metabolic disease\Enzymopathy\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Congenital disease\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\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 (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Hereditary disease\Inborn error of metabolism\Testosterone 17-beta-dehydrogenase deficiency
\Disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Testosterone 17-beta-dehydrogenase deficiency

Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
84424012	Testosterone 17-beta-dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
84425013	17B-HSD deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
84426014	17-Ketosteroid reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
84427017	17-KSR deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
84428010	Neutral 17-beta-hydroxysteroid oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
788470016	Testosterone 17-beta-dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Testosterone 17-beta-dehydrogenase deficiency	Is a	Disorder of steroid metabolism	true	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Congenital anomaly of adrenal gland (disorder)	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Testosterone 17-beta-dehydrogenase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Associated morphology	Congenital hyperplasia	true	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Associated morphology	Hyperplasia	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets