1354544003: Hereditary transthyretin related amyloidosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary amyloidosis (disorder)\Hereditary transthyretin related amyloidosis (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary transthyretin related amyloidosis (disorder)
• \Systemic disease\Systemic amyloidosis\Hereditary transthyretin related amyloidosis (disorder)
• \Amyloidosis\Hereditary amyloidosis (disorder)\Hereditary transthyretin related amyloidosis (disorder)
• \Amyloidosis\Systemic amyloidosis\Hereditary transthyretin related amyloidosis (disorder)

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
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
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

Expanded Value Set

Reference Sets

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

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