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721014007: syndrome cardiomélique type slovène (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
3323045015 Heart-hand syndrome Slovenian type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323046019 Heart-hand syndrome Slovenian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323047011 Atriodigital dysplasia Slovenian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323048018 Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756851000241115 syndrome cardiomélique type slovène (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
879801000172115 dysplasie atrio-digitale type slovène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
895001000172119 syndrome cardiomélique type slovène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323049014 A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. 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
Heart-hand syndrome Slovenian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Congenital anomaly of myocardium true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) brachydactylie true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Congestive cardiomyopathy (disorder) true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) structure du myocarde true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) Bone structure of extremity false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) dilatation false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) localisation d'une constatation (attribut) structure du myocarde false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) Congenital cardiovascular disorder (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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