Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
Cardiac familial non-neuropathic amyloidosis
Cardiovascular system hereditary disorder
Cardiovascular system hereditary disorder
Familial restrictive cardiomyopathy
Familial restrictive cardiomyopathy
Hereditary amyloidosis
Infiltrative cardiomyopathy
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Transthyretin related familial amyloid cardiomyopathy (disorder)
Transthyretin related familial amyloid cardiomyopathy
ATTRV122I amyloidosis
Transthyretin amyloid cardiopathy
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.
transthyretine-amyloïde cardiomyopathie
ATTR-CM
ATTR-cardiomyopathie
Id715655000
StatusDefined
Associated morphologyAmyloid deposition
Associated morphologyAmyloid deposition
Causative agentPrealbumin
Finding siteMyocardium structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE85.4
RuleTRUE
AdviceALWAYS E85.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI43.1
RuleTRUE
AdviceALWAYS I43.1 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified