telangiectasia, hereditary hemorrhagic

Preferred Label : telangiectasia, hereditary hemorrhagic;

MeSH definition : 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.;

MeSH synonym : osler rendu disease; osler weber rendu syndrome; hemorrhagic telangiectasia, hereditary; hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu syndrome; osler-rendu disease; osler-rendu-weber disease; osler rendu weber disease; telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber; osler's disease; osler disease; Rendu-Osler-Weber Disease; Rendu Osler Weber Disease; Weber-Osler Syndrome; Weber Osler Syndrome; Weber-Osler Disease; Weber Osler Disease;

CISMeF synonym : Rendu-Osler-Weber; Weber-Osler; disease, osler's; rendu osler weber; telangiectasia, hereditary hemorrhagic, type 1; weber osler;

Details

Origin ID

D013683;

UMLS CUI

C0039445;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Maestro [OMIM gene]
- Polycythemia vera (disorder) [SNOMED CT concept]
- cardiovascular disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
- Hereditary haemorrhagic telangiectasia [ICD-11 Sub-sub category]
- Hereditary haemorrhagic telangiectasia [ICD-10 Sub-category (who)]
- Hereditary haemorrhagic telangiectasia [MedDRA Preferred Term]
- Hereditary hemorrhagic telangiectasia [ICD-10 Sub-category]
- Hereditary hemorrhagic telangiectasia [ICD-9 code]
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
- Hereditary hemorrhagic telangiectasia [MedDRA LLT]
- Osler hemorrhagic telangiectasia syndrome (disorder) [SNOMED CT concept]
- Osler-Rendu disease [PASCAL descriptor]
- Osler-Weber-Rendu disease [MedDRA LLT]
- Rendu Osler Weber syndrome [Disease (Nov.)]
- Rendu-Osler-Weber disease [TUV Concept]
- Rendu-Osler-Weber syndrome [MedDRA LLT]
- Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({ps178600}) [OMIM phenotypic series]
- Telangiectasia, hereditary hemorrhagic, type 1 [OMIM Phenotype]
- hereditary hemorrhagic telangiectasia [DO Concept]
- osler hemorrhagic telangiectasia syndrome [SNOMED Notion]
DO Cross reference
- hereditary hemorrhagic telangiectasia [DO Concept]
Indexing information
- ENG protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Conjunctival telangiectasia [ORDO Disease]
- Genetic skin vascular disorder [ORDO Disease]
- Genetic vascular anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Neurovascular malformation [ORDO Disease]
- Rare capillary malformation [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare systemic disease [ORDO Disease]
- Skin vascular disease [ORDO Disease]
Record concept(s)
- Telangiectasia, Hereditary Hemorrhagic, Type 1 [MeSH concept]
- telangiectasia, hereditary hemorrhagic [MeSH concept]
Related MeSH Supplementary Concept(s)
- juvenile polyposis with hereditary hemorrhagic telangiectasia [MeSH Supplementary Concept]
- osler-rendu-weber syndrome 2 [MeSH Supplementary Concept]
- osler-rendu-weber syndrome 3 [MeSH Supplementary Concept]
- telangiectasia, hereditary hemorrhagic, type 4 [MeSH Supplementary Concept]
See also
- angiomatosis [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
- Hereditary haemorrhagic telangiectasia [MedDRA Preferred Term]
- Hereditary haemorrhagic telangiectasia [ICD-10 Sub-category (who)]
- Hereditary hemorrhagic telangiectasia [ICD-9 code]
- Hereditary hemorrhagic telangiectasia [ICD-10 Sub-category]
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
- Hereditary hemorrhagic telangiectasia [MedDRA LLT]
- Osler hemorrhagic telangiectasia syndrome (disorder) [SNOMED CT concept]
- Osler-Rendu disease [PASCAL descriptor]
- Osler-Weber-Rendu disease [MedDRA LLT]
- Rendu Osler Weber syndrome [Disease (Nov.)]
- Rendu-Osler-Weber disease [TUV Concept]
- Rendu-Osler-Weber syndrome [MedDRA LLT]
- Telangiectasia, hereditary hemorrhagic, type 1 [OMIM Phenotype]
- hereditary hemorrhagic telangiectasia [DO Concept]
- osler hemorrhagic telangiectasia syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- telangiectasia hereditary hemorrhagic type 1 [Disease (Nov.)]

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