Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Cerebral Amyloid Angiopathy
Synonyms

HCHWA

Hereditary cerebral hemorrhage with amyloidosis

Definitions

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.

ID

http://www.orpha.net/ORDO/Orphanet_85458

alternative_term

HCHWA

Hereditary cerebral hemorrhage with amyloidosis

definition

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85458

has_age_of_onset

Adult

has_inheritance

Autosomal dominant

hasDbXref

ICD-11:8B22.3

OMIM:605714

OMIM:105150

ICD-10:I68.0*

UMLS:C1510489

ICD-10:E85.4+

label

Cerebral Amyloid Angiopathy

notation

ORPHA:85458

part_of

http://www.orpha.net/ORDO/Orphanet_477754

http://www.orpha.net/ORDO/Orphanet_69

http://www.orpha.net/ORDO/Orphanet_444116

http://www.orpha.net/ORDO/Orphanet_98549

prefixIRI

ORDO:Orphanet_85458

prefLabel

Cerebral Amyloid Angiopathy

present_in

Worldwide AND has_cases/families_value : 350.0 (Case)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_477754

http://www.orpha.net/ORDO/Orphanet_69

http://www.orpha.net/ORDO/Orphanet_444116

http://www.orpha.net/ORDO/Orphanet_98549

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_85458 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_85458 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_85458 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0005620 MONDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84625 BERO LOOM
http://www.ebi.ac.uk/efo/EFO_0006790 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0006790 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0006790 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.560.200.200 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84625 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.510.200.200 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036328 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038754 OMIM LOOM
http://purl.obolibrary.org/obo/OMIT_0017112 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_9246 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9246 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9246 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9246 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9246 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9246 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9246 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/I68.0 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.845.500.100 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cerebral_Amyloid_Angiopathy CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/G674000 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016657 RH-MESH LOOM
http://purl.obolibrary.org/obo/MP_0004254 MP LOOM
http://purl.obolibrary.org/obo/MP_0004254 MP LOOM
http://purl.obolibrary.org/obo/MP_0004254 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0004254 CHIRO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#cerebral_amyloid_angiopathy NIO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230724001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/X00Do RCD LOOM
http://purl.obolibrary.org/obo/HP_0011970 DIAB LOOM
http://purl.obolibrary.org/obo/HP_0011970 HP LOOM
http://purl.obolibrary.org/obo/HP_0011970 UPHENO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15504 OCHV LOOM
http://doe-generated-ontology.com/OntoAD#C0085220 ONTOAD LOOM
http://purl.obolibrary.org/obo/ND_0000188 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000188 NIO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068044 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085220 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0005620 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005620 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D016657 MESH LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_db9c15ae_0fe8_486e_aad0_a3d076d8cd8e STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_db9c15ae_0fe8_486e_aad0_a3d076d8cd8e CVAO LOOM
http://purl.jp/bio/4/id/200906092555435930 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10/I68.0 ICD10 LOOM