has characteristic has characteristic mitral valve stenosis congenital mitral valve insufficiency and/or stenosis congenital mitral stenosis https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_mitral_stenosis ICD10CM:Q23.2 congenital mitral stenosis (disease) UMLS:C0158618 GARD:0001496 ICD9:746.5 MONDO:0020398 SCTID:82458004 MEDGEN:57857 hereditary mitral valve stenosis icd11.foundation:2102952411 congenital mitral stenosis (disease) Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure. congenital mitral valve stenosis congenital mitral stenosis HP:0011570 Orphanet:99057 NANDO:1200963 inherited inherited mitral valve disease