720609003: Cardiomyopathy with cataract and hip spine disease syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Hip joint finding\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of hip region\Hip joint finding\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of hip region\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease 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\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease 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\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease 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\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease 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\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome

\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Cardiomyopathy with cataract and hip spine disease syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiomyopathy with cataract and hip spine disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Joint finding\Hip joint finding\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome

\Disease\Disorder of joint region\Arthropathy\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of joint region\Arthropathy\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of joint region\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of hip\Disorder of hip joint\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Cardiomyopathy with cataract and hip spine disease syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Disorder of joint of spine\Cardiomyopathy with cataract and hip spine disease syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3320893014 Cardiomyopathy with cataract and hip spine disease syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320894015 Cardiomyopathy with cataract and hip spine disease syndrome en Synonym Active Case insensitive SNOMED CT core

3320895019 Krasnow Qazi syndrome en Synonym Active Case sensitive SNOMED CT core

3321531012 Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cardiomyopathy with cataract and hip spine disease syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Cardiomyopathy with cataract and hip spine disease syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Disorder of joint of spine	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Congestive cardiomyopathy	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Nonsenile cataract	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Is a	Disorder of hip joint	true	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome	Finding site	Joint structure of spine	true	Inferred relationship	Some	2
Cardiomyopathy with cataract and hip spine disease syndrome	Finding site	Hip joint structure	true	Inferred relationship	Some	3
Cardiomyopathy with cataract and hip spine disease syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	4
Cardiomyopathy with cataract and hip spine disease syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	4
Cardiomyopathy with cataract and hip spine disease syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	5
Cardiomyopathy with cataract and hip spine disease syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3320893014	Cardiomyopathy with cataract and hip spine disease syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320894015	Cardiomyopathy with cataract and hip spine disease syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320895019	Krasnow Qazi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321531012	Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Case sensitive	SNOMED CT core