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1354544003: Hereditary transthyretin related amyloidosis (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Genetic disease\Hereditary disease\...
      • \Hereditary amyloidosis (disorder)\A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
      • \Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
    • \Systemic disease\Systemic amyloidosis\A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
    • \Amyloidosis\Hereditary amyloidosis (disorder)\A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
    • \Amyloidosis\Systemic amyloidosis\A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5422691018 A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5422692013 A rare genetic systemic disease characterised by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5422681012 Familial transthyretin-related amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422682017 Hereditary transthyretin related amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422683010 ATTRv amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5422684016 Hereditary transthyretin related amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422685015 Hereditary TTR amyloidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5422686019 Familial TTR-related amyloidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5422687011 Hereditary ATTR amyloidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5422688018 Hereditary transthyretin amyloid polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422689014 hATTR - hereditary transthyretin related amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5422690017 Hereditary TTR amyloid polyneuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Occurrence Adulthood true Inferred relationship Some 1
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Associated morphology Amyloid deposition true Inferred relationship Some 1
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Is a Hereditary amyloidosis (disorder) true Inferred relationship Some
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Is a Systemic amyloidosis true Inferred relationship Some
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Causative agent (attribute) Prealbumin true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Is a True A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Inferred relationship Some

Reference Sets

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

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