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724357007: Hereditary cerebral hemorrhage with amyloidosis (disorder)

Status: current, Not 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
3434553019 Hereditary cerebral hemorrhage with amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434554013 Hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434555014 Hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434556010 HCHWA - hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434557018 HCHWA - hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403317012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403318019 A rare genetic cerebral small vessel disease characterised by amyloid deposition in the cerebral blood vessels leading to predominantly haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434553019 Hereditary cerebral hemorrhage with amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434554013 Hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434555014 Hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434556010 HCHWA - hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434557018 HCHWA - hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434558011 Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434559015 Describes a group of rare familial central nervous system disorders characterised by amyloid deposition in the cerebral blood vessels leading to haemorrhagic and non-haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403317012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403318019 A rare genetic cerebral small vessel disease characterised by amyloid deposition in the cerebral blood vessels leading to predominantly haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415471001000118 Hereditäre zerebrale Hämorrhagie mit Amyloidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
904181000172117 hémorragie cérébrale héréditaire avec amylose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989451000172116 HCHWA - hereditary cerebral hemorrhage with amyloidosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
904181000172117 hémorragie cérébrale héréditaire avec amylose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989451000172116 HCHWA - hereditary cerebral hemorrhage with amyloidosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415471001000118 Hereditäre zerebrale Hämorrhagie mit Amyloidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cerebrovascular amyloidosis false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cerebral amyloid angiopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Localized hereditary amyloidosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cardiovascular system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Associated morphology Focal amyloid false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Cerebrovascular system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary amyloidosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary cerebrovascular amyloidosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Chronic disease of cardiovascular system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Disorder of the central nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary cerebral hemorrhage with amyloidosis (disorder) Associated morphology Focal amyloid true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Cerebrovascular system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary cerebral amyloid angiopathy, Icelandic type Is a True Hereditary cerebral hemorrhage with amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Dutch type Is a True Hereditary cerebral hemorrhage with amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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