Familial Hypertrophic Cardiomyopathy Type 1

Preferred Label : Familial Hypertrophic Cardiomyopathy Type 1;

NCIt synonyms : CMH1; Idiopathic Hypertrophic Subaortic Stenosis; IHSS; Hereditary Ventricular Hypertrophy; Asymmetric Septal Hypertrophy;

NCIt definition : An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively.;

Details

Origin ID

C172092;

UMLS CUI

C3495498;

Automatic exact mappings (from CISMeF team)
- Hereditary ventricular hypertrophy [ICD-11 More detail]
- IHSS [MedDRA LLT]
- Idiopathic hypertrophic subaortic stenosis [MedDRA LLT]
- Idiopathic hypertrophic subaortic stenosis (disorder) [SNOMED CT concept]
- Obstructive hypertrophic cardiomyopathy [ICD-10 Sub-category]
- Obstructive hypertrophic cardiomyopathy [ICD-11 Sub-sub category]
- cardiomyopathy, hypertrophic [MeSH Descriptor]
- cardiomyopathy, hypertrophic, familial [MeSH Descriptor]
- hypertrophic subaortic stenosis, idiopathic [MeSH concept]
- idiopathic hypertrophic subaortic stenosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Asymmetric septal hypertrophy [HPO term]
- Asymmetrical septal hypertrophy [ICD-11 More detail]
- Cardiomyopathy, familial hypertrophic, 1 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 1 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH concept]
- hypertrophic cardiomyopathy 1 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, familial hypertrophic, 1 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 1 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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