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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3320894015 Cardiomyopathy with cataract and hip spine disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320895019 Krasnow Qazi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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