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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 Reference Sets
3434553019 Hereditary cerebral hemorrhage with amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3434554013 Hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3434555014 Hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3434556010 HCHWA - hereditary cerebral hemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
3434557018 HCHWA - hereditary cerebral haemorrhage with amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
904181000172117 hémorragie cérébrale héréditaire avec amylose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
989451000172116 HCHWA - hereditary cerebral hemorrhage with amyloidosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2161591000172111 hémorragie cérébrale héréditaire avec amyloïdose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
974201000172114 erfelijke cerebrale hemorragie met amyloïdose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
1009791000172111 HCHWA - hereditary cerebral hemorrhage with amyloidosis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2161581000172113 erfelijke cerebrale bloeding met amyloïdose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2161601000172118 hereditaire cerebrale amyloïdangiopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

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 Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cerebrovascular amyloidosis false Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cerebral amyloid angiopathy false Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Localised hereditary amyloidosis true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Cardiovascular system hereditary disorder false Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Associated morphology Focal amyloid false Inferred relationship Some 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Cerebrovascular system structure false Inferred relationship Some 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary amyloidosis (disorder) false Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Hereditary cerebrovascular amyloidosis true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Chronic disease of cardiovascular system true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Disorder of the central nervous system (disorder) true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 3
Hereditary cerebral hemorrhage with amyloidosis (disorder) Associated morphology Focal amyloid true Inferred relationship Some 1
Hereditary cerebral hemorrhage with amyloidosis (disorder) Finding site Cerebrovascular system structure true Inferred relationship Some 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 Some
Hereditary cerebral amyloid angiopathy, Dutch type Is a True Hereditary cerebral hemorrhage with amyloidosis (disorder) Inferred relationship Some

This concept is not in any reference sets

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