familial thoracic aortic aneurysm and aortic dissection

Go to external page http://purl.obolibrary.org/obo/MONDO_0019625


A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. [ Orphanet : 91387 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0001654 (MONDO:equivalentTo)
  • GARD:0002249 (MONDO:equivalentTo)
  • OMIM:609192 (Orphanet:91387/ntbt)
  • ICD9:447.9 (MONDO:relatedTo)
  • UMLS:C0392775 (Orphanet:229)
  • Orphanet:91387 (OMIM:607086)
  • SCTID:764965000 (MONDO:equivalentTo)
  • OMIMPS:607086 (MONDO:equivalentTo)
  • OMIM:610168 (Orphanet:91387/ntbt)
  • SCTID:45894003 (MONDO:equivalentTo)
  • UMLS:CN118826 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, prototype_pattern

abbreviation
FTAAD
definition
  • A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
exactMatch
  • http://identifiers.org/snomedct/764965000
  • http://linkedlifedata.com/resource/umls/id/CN118826
  • http://linkedlifedata.com/resource/umls/id/C0392775
  • http://identifiers.org/snomedct/45894003
  • http://www.orpha.net/ORDO/Orphanet_91387
  • https://omim.org/phenotypicSeries/PS607086
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0017310
has exact synonym
  • Erdheim disease
  • familial TAAD
  • familial thoracic aortic aneurysm and aortic dissection
  • FTAAD
  • familial aortic dissection
has related synonym
  • Erdheim cystic medial necrosis of aorta
  • cystic medial necrosis of aorta
  • annuloaortic ectasia
  • familial aortic aneurysm
  • familial thoracic aortic aneurysm and dissection
  • familial thoracic aortic aneurysm
id
  • MONDO:0019625
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations