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famililal cerebral cavernous malformations

^ http://purl.obolibrary.org/obo/MONDO_0031037


A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. [ Orphanet:221061 ]

Term info

database cross reference
  • OMIMPS:116860 (MONDO:equivalentTo)
  • Orphanet:221061 (OMIM:116860)
  • SCTID:717003001 (MONDO:equivalentTo)
  • UMLS:C2931263 (Orphanet:221061)
Subsets

ordo_malformation_syndrome

abbreviation
CCM [ OMIM:116860 MONDO:Lexical ]

definition

A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_221061, http://identifiers.org/snomedct/717003001, https://omim.org/phenotypicSeries/PS116860, http://linkedlifedata.com/resource/umls/id/C2931263

has exact synonym

familial brain cavernous hemangioma, famililal cerebral cavernous malformations, hereditary brain cavernous hemangioma, hereditary brain cavernous angioma, familial cerebral cavernoma, familial brain cavernous angioma, hereditary cerebral cavernoma, hereditary cerebral cavernous malformation, familial cerebral cavernous malformation

has related synonym

cerebral cavernous malformations, cavernous angioma, familial, cavernous angiomatous malformations, cerebral capillary malformations, hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations, CCM, cavernous malformations of CNS and retina

id

MONDO:0031037