Hereditary Hemorrhagic Telangiectasia

Preferred Label : Hereditary Hemorrhagic Telangiectasia;

NCIt synonyms : Osler-Weber-Rendu Disease; Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler;

NCIt definition : An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.;

Codes from synonyms : I78.0;

Details

Origin ID

C35064;

UMLS CUI

C0039445;

Currated CISMeF NLP mapping
- 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]
- telangiectasia, hereditary hemorrhagic [MeSH Descriptor]
- telangiectasia, hereditary hemorrhagic [MeSH concept]
DO Cross reference
- hereditary hemorrhagic telangiectasia [DO Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- telangiectasia, hereditary hemorrhagic [MeSH concept]
- telangiectasia, hereditary hemorrhagic [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- mCode Elixhauser Peripheral Vascular Disease Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
disease_mapped_to_gene
- ACVRL1 Gene [NCIt concept]
- ENG Gene [NCIt concept]
- SMAD4 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ACVRL1 Gene [NCIt concept]
- ACVRL1 wt Allele [NCIt concept]
- ENG Gene [NCIt concept]
- ENG wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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