715655000: transthyretine-amyloïde cardiomyopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\...

\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary amyloidosis (disorder)\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Degenerative disorder\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Degenerative disorder\Amyloidosis\Hereditary amyloidosis (disorder)\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Degenerative disorder\Amyloidosis\Familial non-neuropathic amyloidosis\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Restrictive cardiomyopathy (disorder)\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Myocardial degeneration\Infiltrative cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Familial disease\Familial non-neuropathic amyloidosis\Cardiac familial non-neuropathic amyloidosis\Transthyretin related familial amyloid cardiomyopathy (disorder)
\Disease\Familial disease\Familial cardiomyopathy\Familial restrictive cardiomyopathy\Transthyretin related familial amyloid cardiomyopathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303311010 Transthyretin related familial amyloid cardiomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303312015 Transthyretin related familial amyloid cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303313013 Transthyretin amyloid cardiopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303314019 ATTRV122I amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6989751000146118 transthyretine-amyloïde cardiomyopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6989761000146115 transthyretine-amyloïde cardiomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6989771000146114 ATTR-cardiomyopathie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6989781000146111 ATTR-CM nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3303316017 Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transthyretin related familial amyloid cardiomyopathy (disorder)	Associated morphology	Amyloid deposition	true	Inferred relationship	Some	1
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Familial restrictive cardiomyopathy	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Familial non-neuropathic amyloidosis	false	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Finding site	Myocardium structure	false	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Hereditary amyloidosis (disorder)	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Myocardial degeneration	false	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Transthyretin related familial amyloid cardiomyopathy (disorder)	Causative agent	Prealbumin	true	Inferred relationship	Some	1
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Infiltrative cardiomyopathy	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Cardiac familial non-neuropathic amyloidosis	true	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	Familial amyloidosis (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets