721841001: Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Heart valve finding\Mitral valve finding\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Heart valve finding\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Heart valve finding\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart valve finding\Mitral valve finding\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart valve finding\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart valve finding\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Cardiovascular finding\Cardiac finding\Heart valve finding\Mitral valve finding\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiac finding\Heart valve finding\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiac finding\Heart valve finding\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Cardiac valve prolapse\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Heart valve disease\Mitral valve disorder\Mitral valve prolapse\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hypogonadism with mitral valve prolapse and intellectual disability syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Hypogonadism with mitral valve prolapse and intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3326221019 Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3326222014 Hypogonadism with mitral valve prolapse and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3326223016 Cantalamessa Baldini Ambrosi syndrome en Synonym Active Case sensitive SNOMED CT core

3326224010 Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Is a	Mitral valve prolapse	true	Inferred relationship	Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Associated morphology	Prolapse	true	Inferred relationship	Some	2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Finding site	Mitral valve structure	true	Inferred relationship	Some	2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326221019	Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3326222014	Hypogonadism with mitral valve prolapse and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326223016	Cantalamessa Baldini Ambrosi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326224010	Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal.	en	Definition	Active	Case sensitive	SNOMED CT core