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720609003: syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes (trouble)


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
755761000241117 syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
896861000172115 syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
923381000172114 syndrome de Krasnow-Qazi fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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) morphologie associée (attribut) opacité true Inferred relationship Some 1
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 1
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Disorder of joint of spine (disorder) true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Congestive cardiomyopathy (disorder) true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Nonsenile cataract (disorder) true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) Disorder of hip joint (disorder) true Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) localisation d'une constatation (attribut) articulation de la colonne vertébrale (structure corporelle) true Inferred relationship Some 2
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) localisation d'une constatation (attribut) structure de l'articulation de la hanche (structure corporelle) true Inferred relationship Some 3
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 4
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) localisation d'une constatation (attribut) structure du myocarde true Inferred relationship Some 4
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 5
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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