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715655000: 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
5423500013 A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303311010 Transthyretin related familial amyloid cardiomyopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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
5423500013 A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418801001000115 ATTRV122I-Amyloidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475941000241110 cardiomyopathie amyloïde familiale liée à la transthyrétine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475941000241110 cardiomyopathie amyloïde familiale liée à la transthyrétine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418801001000115 ATTRV122I-Amyloidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept) 1
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Familial restrictive cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Familial non-neuropathic amyloidosis false Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Finding site Myocardium structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Hereditary amyloidosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Myocardial degeneration (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Transthyretin related familial amyloid cardiomyopathy (disorder) Causative agent (attribute) Transthyretin (substance) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Infiltrative cardiomyopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Familial non-neuropathic amyloidosis of heart (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a Hereditary ATTR amyloidosis true Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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