721014007: Heart-hand syndrome Slovenian type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\...

\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type

\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\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\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\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\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\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\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\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\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Heart-hand syndrome Slovenian type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heart-hand syndrome Slovenian type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Developmental hereditary disorder\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Heart-hand syndrome Slovenian type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3323046019 Heart-hand syndrome Slovenian type en Synonym Active Initial character case insensitive SNOMED CT core

3323047011 Atriodigital dysplasia Slovenian type en Synonym Active Initial character case insensitive SNOMED CT core

3323048018 Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

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
3323045015	Heart-hand syndrome Slovenian type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3323046019	Heart-hand syndrome Slovenian type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323047011	Atriodigital dysplasia Slovenian type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323048018	Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core