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715655000: Transthyretin related familial amyloid cardiomyopathy (disorder)


Status: current, Defined. 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 Case insensitive SNOMED CT core
3303312015 Transthyretin related familial amyloid cardiomyopathy en Synonym Active Case insensitive SNOMED CT core
3303313013 Transthyretin amyloid cardiopathy en Synonym Active Case insensitive SNOMED CT core
3303314019 ATTRV122I amyloidosis en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Transthyretin related familial amyloid cardiomyopathy Is a Myocardial degeneration false Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Finding site Myocardium structure true Inferred relationship Some 1
Transthyretin related familial amyloid cardiomyopathy Causative agent Prealbumin true Inferred relationship Some 1
Transthyretin related familial amyloid cardiomyopathy Is a Infiltrative cardiomyopathy true Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a Cardiac familial non-neuropathic amyloidosis true Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Associated morphology Amyloid deposition true Inferred relationship Some 1
Transthyretin related familial amyloid cardiomyopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a Familial restrictive cardiomyopathy true Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a Familial non-neuropathic amyloidosis false Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Finding site Myocardium structure false Inferred relationship Some 2
Transthyretin related familial amyloid cardiomyopathy Is a Hereditary amyloidosis true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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