Progressive Familial Heart Block, Type Ia

Preferred Label : Progressive Familial Heart Block, Type Ia;

NCIt synonyms : PFHB1A; Lenegre's Disease; Lenegre-Lev Disease; Progressive Familial Heart Block 1A;

NCIt definition : An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.;

Details

Origin ID

C126651;

UMLS CUI

C1879286;

Currated CISMeF NLP mapping
- Hereditary bundle branch system defect [MeSH concept]
- Lenegre's disease [MedDRA Preferred Term]
- Lenegre's disease (disorder) [Inactive SNOMED CT concept]
- Lev's syndrome (disorder) [SNOMED CT concept]
- Progressive familial heart block, type ia [OMIM Phenotype]
- hereditary bundle branch system defect [MeSH Supplementary Concept]
- lenegre's disease [SNOMED Notion]
- progressive familial heart block type IA [DO Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial progressive cardiac conduction defect [ORDO Disease]
- Hereditary bundle branch system defect [MeSH concept]
- Lev's syndrome (disorder) [SNOMED CT concept]
- Progressive familial heart block (disorder) [SNOMED CT concept]
- Progressive familial heart block, type ia [OMIM Phenotype]
- hereditary bundle branch system defect [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Familial progressive cardiac conduction defect [ORDO Disease]
- Progressive familial heart block (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SCN5A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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