721014007: Heart-hand syndrome Slovenian type (disorder)

\Congenital anomaly of myocardium\Heart-hand syndrome Slovenian type (disorder)

Descriptions:

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
Heart-hand syndrome Slovenian type (disorder)	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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)	Belgian module (core metadata concept)
895001000172119	syndrome cardiomélique type slovène	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2150681000172112	syndrome cœur-membres type slovène	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2150691000172110	syndrome cœur-main type slovène	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2150701000172110	dysplasie atriodigitale type slovène	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2150721000172115	syndrome de trouble du rythme-cardiomyopathie dilatée-brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
957981000172115	atriodigitale dysplasie, Sloveens type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
970191000172119	hart-handsyndroom, Sloveens type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2150671000172114	hart-handsyndroom van Sloveens type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5992961000172116	syndroom van hartgeleidingsziekte, gedilateerde cardiomyopathie en brachydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)