763715007: Familial hyperprolactinemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia

\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia

\Functional finding\Increased hormone production\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia

\Endocrine finding\Increased hormone production\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial hyperprolactinaemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial hyperprolactinaemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial hyperprolactinaemia
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial hyperprolactinaemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial hyperprolactinaemia
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial hyperprolactinaemia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial hyperprolactinaemia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Hyperprolactinaemia\Familial hyperprolactinaemia
\Disease\Familial disease\Familial hyperprolactinaemia

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643457015 Familial hyperprolactinemia en Synonym Active Case insensitive SNOMED CT core

3643458013 Familial hyperprolactinemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3643459017 Familial hyperprolactinaemia en Synonym Active Case insensitive SNOMED CT core

3643460010 Familial isolated prolactin receptor deficiency en Synonym Active Case insensitive SNOMED CT core

3643461014 A rare genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. en Definition Active Case sensitive SNOMED CT core

3643462019 A rare genetic endocrine disorder characterised by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumour) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinaemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhoea and galactorrhoea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhoea and primary infertility have also been reported in some female patients. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hyperprolactinaemia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial hyperprolactinaemia	Is a	Familial disease	true	Inferred relationship	Some
Familial hyperprolactinaemia	Is a	Hyperprolactinaemia	true	Inferred relationship	Some
Familial hyperprolactinaemia	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Familial hyperprolactinaemia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial hyperprolactinaemia	Occurrence	Congenital	false	Inferred relationship	Some	1
Familial hyperprolactinaemia	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Some	1
Familial hyperprolactinaemia	Has interpretation	Increased	true	Inferred relationship	Some	2
Familial hyperprolactinaemia	Interprets	Hormone production	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643457015	Familial hyperprolactinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3643458013	Familial hyperprolactinemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643459017	Familial hyperprolactinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3643460010	Familial isolated prolactin receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3643461014	A rare genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.	en	Definition	Active	Case sensitive	SNOMED CT core
3643462019	A rare genetic endocrine disorder characterised by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumour) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinaemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhoea and galactorrhoea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhoea and primary infertility have also been reported in some female patients.	en	Definition	Active	Case sensitive	SNOMED CT core