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721014007: Heart-hand syndrome Slovenian type (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
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
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
879801000172115 dysplasie atrio-digitale type slovène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895001000172119 syndrome cardiomélique type slovène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart-hand syndrome Slovenian type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Brachydactyly true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Dysostosis true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a Congestive cardiomyopathy (disorder) true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Associated morphology Dilatation true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Occurrence Congenital true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Finding site Myocardium structure true Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Occurrence Congenital false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) Occurrence Congenital false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) Finding site Bone structure of extremity false Inferred relationship Some 5
Heart-hand syndrome Slovenian type (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Finding site Entire digit false Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Associated morphology Dilatation false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) Finding site Myocardium structure false Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Some
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) Is a Congenital anomaly of myocardium true Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Occurrence Congenital true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) Occurrence Congenital true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) Finding site Entire digit true Inferred relationship Some 2
Heart-hand syndrome Slovenian type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Heart-hand syndrome Slovenian type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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