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Descriptor English: Telangiectasia, Hereditary Hemorrhagic
Descriptor Spanish: Telangiectasia Hemorrágica Hereditaria
Descriptor telangiectasia hemorrágica hereditaria
Entry term(s) enfermedad de Osler-Rendu
enfermedad de Rendu-Osler-Weber
enfermedad de Weber-Osler
síndrome de Weber-Osler
Scope note: Anomalía vascular autosómica dominante, caracterizada por teleangiectasias en piel y mucosas, y sangrado gastrointestinal recurrente. Este proceso se debe a mutaciones de un gen (en el cromosoma 9q3) que codifica la endoglina, una glicoproteína de membrana que se une al FACTOR TRANSFORMADOR DE CRECIMIENTO BETA.
Descriptor Portuguese: Telangiectasia Hemorrágica Hereditária
Descriptor French: Télangiectasie hémorragique héréditaire
Entry term(s): Hemorrhagic Telangiectasia, Hereditary
Hereditary Hemorrhagic Telangiectasia
Osler Disease
Osler Rendu Disease
Osler Rendu Weber Disease
Osler Weber Rendu Syndrome
Osler's Disease
Osler-Rendu Disease
Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome
Rendu Osler Weber Disease
Rendu-Osler-Weber Disease
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Weber Osler Disease
Weber Osler Syndrome
Weber-Osler Disease
Weber-Osler Syndrome
Tree number(s): C14.907.454.900
C14.907.823.780
C15.378.463.515.900
C16.131.240.850.968
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D013683
Scope note: An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 1968; for OSLER-RENDU DISEASE see ANGIOMATOSIS 1963-1967
History Note: 1968(1966); for OSLER-RENDU DISEASE use ANGIOMATOSIS 1963-1967
DeCS ID: 14061
Unique ID: D013683
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1968/01/01
Date of Entry: 1999/01/01
Revision Date: 2019/05/17
Telangiectasia, Hereditary Hemorrhagic - Preferred
Concept UI M0021123
Scope note An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Preferred term Telangiectasia, Hereditary Hemorrhagic
Entry term(s) Hemorrhagic Telangiectasia, Hereditary
Hereditary Hemorrhagic Telangiectasia
Osler Disease
Osler Rendu Disease
Osler Rendu Weber Disease
Osler Weber Rendu Syndrome
Osler's Disease
Osler-Rendu Disease
Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome
Rendu Osler Weber Disease
Rendu-Osler-Weber Disease
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Weber Osler Disease
Weber Osler Syndrome
Weber-Osler Disease
Weber-Osler Syndrome
Telangiectasia, Hereditary Hemorrhagic, Type 1 - Narrower
Concept UI M000649000
Preferred term Telangiectasia, Hereditary Hemorrhagic, Type 1



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