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367601000119103: Hereditary amyloidosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3482130011 Hereditary amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482131010 Hereditary amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
951831000172119 amylose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976291000172110 amyloïdose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

30 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary amyloidosis (disorder) Associated morphology Amyloid deposition true Inferred relationship Some 1
Hereditary amyloidosis (disorder) Is a Amyloidosis true Inferred relationship Some
Hereditary amyloidosis (disorder) Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial Mediterranean fever Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
Lattice corneal dystrophy Type II Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure. Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
syndrome de Meretoja Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Familial amyloid polyneuropathy Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Hereditary cystatin C amyloid angiopathy Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
Lattice corneal dystrophy (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Some
Localised hereditary amyloidosis Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
Hereditary cerebrovascular amyloidosis Is a True Hereditary amyloidosis (disorder) Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. Is a True Hereditary amyloidosis (disorder) 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 True Hereditary amyloidosis (disorder) Inferred relationship Some

This concept is not in any reference sets

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