Heritable Pulmonary Arterial Hypertension

Preferred Label : Heritable Pulmonary Arterial Hypertension;

NCIt synonyms : HPAH;

NCIt definition : A rare, progressive, autosomal dominant inherited disorder. It is caused by mutation in the BMPR2 gene in most cases. It is characterized by abnormally high blood pressure in the pulmonary artery, caused by obstruction and obliteration of the small pulmonary arteries.;

NCI Metathesaurus CUI : CL476349;

Details

Origin ID

C121945;

UMLS CUI

C0340543;

Automatic exact mappings (from CISMeF team)
- 2-oxo-hept-3-ene-1,7-dioate hydratase activity [GO term]
- Primary pulmonary hypertension [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Familial Primary Pulmonary Hypertension [MeSH Descriptor]
- Familial primary pulmonary hypertension (disorder) [SNOMED CT concept]
- Familial pulmonary arterial hypertension [ICD-11 More detail]
- Heritable pulmonary arterial hypertension [ORDO Disease]
- Heritable pulmonary arterial hypertension [MedDRA Preferred Term]
- Heritable pulmonary arterial hypertension (disorder) [SNOMED CT concept]
- familial primary pulmonary hypertension [MeSH concept]
- familial primary pulmonary hypertension [Disease (Nov.)]
False automatic mappings
- hydralazine 4-anisaldehyde hydrazone [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Primary Pulmonary Hypertension [MeSH Descriptor]
- Familial primary pulmonary hypertension (disorder) [SNOMED CT concept]
- Familial pulmonary arterial hypertension [ICD-11 More detail]
- Familial pulmonary arterial hypertension [MedDRA LLT]
- Heritable pulmonary arterial hypertension [ORDO Disease]
- Heritable pulmonary arterial hypertension [MedDRA Preferred Term]
- Heritable pulmonary arterial hypertension (disorder) [SNOMED CT concept]
- familial primary pulmonary hypertension [MeSH concept]
- familial primary pulmonary hypertension [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- BMPR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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