Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Preferred Label : Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;

Symbol : VACRDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ryr2 calcium release deficiency syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : #115000;

Details

Origin ID

115000;

UMLS CUI

C5542154;

Automatic exact mappings (from CISMeF team)
- Adverse Event Associated with Cardiac Arrhythmia [NCIt concept]
- Other specified cardiac dysrhythmias [ICD-9 code]
False automatic mappings
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [NCIt concept]
- EXTRASYSTOLES [WHO-ART Preferred Term]
- Extrasystoles [MedDRA Preferred Term]
- Extrasystoles NOS [MedDRA LLT]
- Premature beats (disorder) [SNOMED CT concept]
- cardiac arrhythmia nos [ICPC-2 Rubric]
- cardiac complexes, premature [MeSH Descriptor]
- cardiac complexes, premature [MeSH concept]
Genes related to phenotype
- Ryanodine receptor 2 [OMIM gene]
HPO term(s)
- Aborted sudden cardiac death [HPO term]
- Autosomal dominant inheritance [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Polymorphic and polytopic ventricular extrasystoles [HPO term]
- Sudden cardiac death [HPO term]
- Torsade de pointes [HPO term]
- Ventricular fibrillation [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ARRHYTHMIA [WHO-ART High Level Term]
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [MedDRA Preferred Term]
- Arrhythmia [ICNP subject]
- Arrhythmia [NCIt concept]
- Arrhythmia [HPO term]
- Arrhythmia [LOINC component]
- Arrhythmia (NOS) [MedDRA LLT]
- Arrhythmia NOS [MedDRA LLT]
- Arrhythmia cardiac (NOS) [MedDRA LLT]
- CARDIAC ARRHYTHMIA NOS [WHO-ART Included Term]
- Cardiac arrhythmia [MedDRA LLT]
- Cardiac arrhythmia (NOS) [MedDRA LLT]
- Cardiac arrhythmia (disorder) [SNOMED CT concept]
- Cardiac arrhythmia NOS [MedDRA LLT]
- Cardiac arrhythmia, unspecified [ICD-10 Sub-category (who)]
- Cardiac arrhythmia, unspecified [ICD-10 Sub-category]
- Cardiac arrhythmias [MedDRA High Level Group Term]
- Cardiac dysrhythmia, unspecified [MedDRA LLT]
- Cardiac dysrhythmia, unspecified [ICD-9 code]
- Cardiac dysrhythmias [LOINC component]
- Cardiac dysrhythmias [MedDRA LLT]
- Cardiac dysrhythmias [ICD-9 code]
- Cardiac rythm disease [BNCI symptom]
- Dysrhythmias [MedDRA LLT]
- Rare cardiac rhythm disease [ORDO Disease]
- arrhythmia [MedlinePlus Topic]
- arrhythmia [BNCI symptom]
- arrhythmia [TUV Concept]
- arrhythmia [TUV Term]
- arrhythmias, cardiac [MeSH Descriptor]
- arrhythmias, cardiac [MeSH concept]
- cardiac arrhythmia nos [ICPC-2 Rubric]
- cardiac dysrhythmia, nos [SNOMED Notion]
- heart arrhythmia [Disease (Nov.)]
Validated automatic mappings to BTNT
- premature heart contraction [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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