loading...| Preferred Name | hypertrophic cardiomyopathy | |
| Synonyms |
familial hypertrophic cardiomyopathy HCM - hypertrophic cardiomyopathy Septal Hypertrophies, Asymmetric HCM - Hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy hypertrophic myocardiopathy Primary hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy Obstructive Cardiomyopathy, Hypertrophic Asymmetric Septal Hypertrophies Subvalvular Stenosis, Idiopathic Hypertrophic Obstructive Cardiomyopathies, Hypertrophic Hypertrophic Obstructive Cardiomyopathies Cardiomyopathy, hypertrophic Cardiomyopathy, Hypertrophic Obstructive Hypertrophy, Asymmetric Septal SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC Asymmetric Septal Hypertrophy Obstructive cardiomyopathy hypertrophic subaortic stenosis Hypertrophies, Asymmetric Septal Hypertrophic obstructive cardiomyopathy (disorder) hyper. obst. cardiomyopathy Hypertrophic Obstructive Cardiomyopathy HYPERTR OBSTR CARDIOMYOP Idiopathic Hypertrophic Subvalvular Stenosis Hypertrophic cardiomyopathy (disorder) HOCM - Hypertrophic obstructive cardiomyopathy Hypertrophic Cardiomyopathies Cardiomyopathies, Hypertrophic Septal Hypertrophy, Asymmetric primary hypertrophic cardiomyopathy (disorder) [Ambiguous] Idiopathic Hypertrophic Subaortic Stenosis SUBVALV STENOSIS Cardiomyopathies, Hypertrophic Obstructive IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS hypertrophic cardiomyopathy HCM IHSS IHSSs |
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| Definitions |
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0000538 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0005045 |
|
| database_cross_reference |
MESH:D002312 OMIM:613876 OMIM:613873 OMIM:613875 OMIM:613874 OMIM:618052 OMIM:115197 OMIM:115196 ICD9:425.11 OMIM:612098 NCIT:C34449 OMIM:613765 Orphanet:217569 NANDO:1200286 NANDO:1200288 OMIM:613251 OMIM:613255 MONDO:0005045 NANDO:2100054 OMIM:613838 OMIM:192600 NANDO:2200229 SCTID:233873004 NCIt:C34449 MedDRA:10020871 SNOMEDCT:233873004 OMIM:601493 NANDO:2201042 UMLS:C0007194 OMIM:613690 icd11.foundation:1830681485 MEDGEN:2881 ICD10CM:I42.2 ICD10CM:I42.1 ORDO:Orphanet_217569 OMIM:608751 OMIM:600858 MeSH:D002312 DOID:11984 HP:0001639 ICD9:425.1 ICD9:425.4 |
|
| definition |
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). |
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| gwas_trait |
true |
|
| has_exact_synonym |
Septal Hypertrophies, Asymmetric HCM - Hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy hypertrophic myocardiopathy Primary hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy Obstructive Cardiomyopathy, Hypertrophic Asymmetric Septal Hypertrophies Subvalvular Stenosis, Idiopathic Hypertrophic Obstructive Cardiomyopathies, Hypertrophic Hypertrophic Obstructive Cardiomyopathies Cardiomyopathy, hypertrophic Cardiomyopathy, Hypertrophic Obstructive Hypertrophy, Asymmetric Septal SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC Asymmetric Septal Hypertrophy Obstructive cardiomyopathy hypertrophic subaortic stenosis Hypertrophies, Asymmetric Septal Hypertrophic obstructive cardiomyopathy (disorder) hyper. obst. cardiomyopathy Hypertrophic Obstructive Cardiomyopathy HYPERTR OBSTR CARDIOMYOP Idiopathic Hypertrophic Subvalvular Stenosis Hypertrophic cardiomyopathy (disorder) HOCM - Hypertrophic obstructive cardiomyopathy Hypertrophic Cardiomyopathies Cardiomyopathies, Hypertrophic Septal Hypertrophy, Asymmetric primary hypertrophic cardiomyopathy (disorder) [Ambiguous] Idiopathic Hypertrophic Subaortic Stenosis SUBVALV STENOSIS Cardiomyopathies, Hypertrophic Obstructive IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS hypertrophic cardiomyopathy HCM IHSS IHSSs |
|
| has_narrow_synonym |
familial hypertrophic cardiomyopathy |
|
| has_related_synonym |
HCM - hypertrophic cardiomyopathy |
|
| IAO_0000233 | ||
| id |
EFO:0000538 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hypertrophic cardiomyopathy |
|
| notation |
EFO:0000538 |
|
| preferred label |
hypertrophic cardiomyopathy |
|
| prefLabel |
hypertrophic cardiomyopathy |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/233873004 http://identifiers.org/medgen/2881 http://linkedlifedata.com/resource/umls/id/C0007194 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1830681485 http://purl.obolibrary.org/obo/NCIT_C34449 http://identifiers.org/mesh/D002312 http://purl.obolibrary.org/obo/EFO_0000538 |
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| skos_narrowMatch | ||
| skos_relatedMatch | ||
| term editor |
Tomasz Adamusiak James Malone |
|
| subClassOf |