cardiomyopathy, hypertrophic, familial

Preferred Label : cardiomyopathy, hypertrophic, familial;

MeSH definition : An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.;

MeSH synonym : cardiomyopathies, familial hypertrophic; hypertrophy, familial ventricular; hypertrophic cardiomyopathy, familial; familial hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic; familial hypertrophic cardiomyopathies; hypertrophic cardiomyopathies, familial; Hereditary Ventricular Hypertrophy; Hereditary Ventricular Hypertrophies; Hypertrophies, Hereditary Ventricular; Hypertrophy, Hereditary Ventricular; Ventricular Hypertrophies, Hereditary; ventricular hypertrophy, familial; Familial Ventricular Hypertrophies; familial ventricular hypertrophy; Ventricular Hypertrophies, Familial; asymmetric septal hypertrophy, familial; ventricular hypertrophy, hereditary;

Related MeSH term : hypertrophic subaortic stenosis, idiopathic; obstructive asymmetric septal hypertrophy;

Details

Origin ID

D024741;

UMLS CUI

C0949658;

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)
- Cardiomyopathy, familial hypertrophic, 1 [OMIM Phenotype]
- Familial Hypertrophic Cardiomyopathy Type 1 [NCIt concept]
- Hereditary ventricular hypertrophy [ICD-11 More detail]
- Idiopathic hypertrophic subaortic stenosis [MedDRA LLT]
- Idiopathic hypertrophic subaortic stenosis (disorder) [SNOMED CT concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- idiopathic hypertrophic subaortic stenosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Cardiomyopathy, familial hypertrophic [OMIM phenotypic series]
- Familial Hypertrophic Cardiomyopathy [NCIt concept]
- Familial-genetic hypertrophic cardiomyopathy [ICD-11 Sub-sub category]
- Obstructive hypertrophic cardiomyopathy [ICD-11 Sub-sub category]
- Obstructive hypertrophic cardiomyopathy [ICD-10 Sub-category]
- Primary familial hypertrophic cardiomyopathy (disorder) [SNOMED CT concept]
- Rare familial disorder with hypertrophic cardiomyopathy [ORDO Disease]
- Rare hypertrophic cardiomyopathy [ORDO Disease]
- familial hypertrophic cardiomyopathy [Disease (Nov.)]
- familial hypertrophic cardiomyopathy [DO Concept]
- hypertrophic cardiomyopathy [DO Concept]
- primary familial hypertrophic cardiomyopathy [SNOMED Notion]
DO Cross reference
- hypertrophic cardiomyopathy [DO Concept]
False automatic mappings
- AL amyloidosis [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy [ORDO Disease]
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Mitochondrial disease with hypertrophic cardiomyopathy [ORDO Disease]
- Non-familial hypertrophic cardiomyopathy [ORDO Disease]
- Rare genetic cardiac disease [ORDO Disease]
- Syndrome associated with hypertrophic cardiomyopathy [ORDO Disease]
ORDO relation(s)
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Rare familial disorder with hypertrophic cardiomyopathy [ORDO Disease]
Record concept(s)
- cardiomyopathy, hypertrophic, familial [MeSH concept]
- hypertrophic subaortic stenosis, idiopathic [MeSH concept]
- obstructive asymmetric septal hypertrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- cardiomyopathy, familial hypertrophic, 1 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 10 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 13 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 14 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 15 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 2 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 4 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 6 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 8 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 9 [MeSH Supplementary Concept]
See also
- cardiac myosins [MeSH Descriptor]
- tropomyosin [MeSH Descriptor]
- troponin t [MeSH Descriptor]
- ventricular myosins [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy [NCIt concept]
- Primary familial hypertrophic cardiomyopathy (disorder) [SNOMED CT concept]
- Rare familial disorder with hypertrophic cardiomyopathy [ORDO Disease]
- familial hypertrophic cardiomyopathy [Disease (Nov.)]
- primary familial hypertrophic cardiomyopathy [SNOMED Notion]
Validated automatic mappings to NTBT
- Hypertrophic cardiomyopathy [ICD-11 Subcategory]

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