| HPO |
HP:0005100 |
Premature birth following premature rupture of fetal membranes |
— |
— |
HP:0001622, HP:0001788 |
| HPO |
HP:0005101 |
High-frequency hearing impairment |
"A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [HPO:probinson] |
High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. |
HP:0000365 |
| HPO |
HP:0005102 |
Cochlear degeneration |
"Deterioration or loss of the tissues of the cochlea." [HPO:probinson] |
— |
HP:0000375 |
| HPO |
HP:0005103 |
Calcification of the auricular cartilage |
"Ossification affecting the external ear cartilage." [HPO:probinson, PMID:15523361, PMID:23259082] |
— |
HP:0000377, HP:0100593, HP:3000022 |
| HPO |
HP:0005104 |
Hypoplastic nasal septum |
"Underdevelopment of the nasal septum." [HPO:curators] |
— |
HP:0009935 |
| HPO |
HP:0005105 |
Abnormal nasal morphology |
— |
This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. |
HP:0000366 |
| HPO |
HP:0005106 |
Abnormality of the vertebral endplates |
"Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [HPO:curators] |
— |
HP:0003312 |
| HPO |
HP:0005107 |
Abnormal sacrum morphology |
"An abnormality of the sacral bone." [HPO:probinson] |
The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. |
HP:0000925 |
| HPO |
HP:0005108 |
Abnormality of the intervertebral disk |
"An abnormality of the intervertebral disk." [HPO:probinson] |
Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. |
HP:0000925 |
| HPO |
HP:0005109 |
Abnormality of the Achilles tendon |
"An abnormality of the Achilles tendon." [HPO:probinson] |
— |
HP:0001760, HP:0100261 |
| HPO |
HP:0005110 |
Atrial fibrillation |
"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [HPO:probinson] |
The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. |
HP:0001692 |
| HPO |
HP:0005111 |
obsolete Dilatation of the ascending aorta |
— |
— |
— |
| HPO |
HP:0005112 |
Abdominal aortic aneurysm |
"An abnormal localized widening (dilatation) of the abdominal aorta." [] |
— |
HP:0004942 |
| HPO |
HP:0005113 |
Aortic arch aneurysm |
"An abnormal localized widening (dilatation) of the aortic arch." [] |
— |
HP:0012727 |
| HPO |
HP:0005114 |
obsolete Abnormalities of the peripheral arteries |
— |
— |
— |
| HPO |
HP:0005115 |
Supraventricular arrhythmia |
"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [HPO:probinson] |
Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. |
HP:0011675 |
| HPO |
HP:0005116 |
Arterial tortuosity |
"Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators] |
— |
HP:0004948, HP:0011004 |
| HPO |
HP:0005117 |
Elevated diastolic blood pressure |
"Abnormal increase in diastolic blood pressure." [HPO:probinson] |
Normal diastolic blood pressure is less than 80 mmHg. |
HP:0032263 |
| HPO |
HP:0005120 |
Abnormal cardiac atrium morphology |
"Any structural abnormality of a cardiac atrium." [HPO:probinson] |
— |
HP:0001627 |
| HPO |
HP:0005121 |
Posterior scalloping of vertebral bodies |
"An excessive concavity of the posterior surface of one or more vertebral bodies." [HPO:probinson] |
The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. |
HP:0004586 |
| HPO |
HP:0005129 |
Congenital hypertrophy of left ventricle |
— |
— |
HP:0001712 |
| HPO |
HP:0005130 |
obsolete Restrictive heart failure |
— |
— |
— |
| HPO |
HP:0005132 |
Pericardial constriction |
"Compression of the heart caused by rigid, thickened, or fused pericardial membranes." [PMID:14966039] |
— |
HP:0001697 |
| HPO |
HP:0005133 |
Right ventricular dilatation |
"Enlargement of the chamber of the right ventricle." [HPO:probinson, PMID:17715105] |
— |
HP:0001707 |
| HPO |
HP:0005134 |
Absence of the pulmonary valve |
"Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [DDD:dbrown] |
The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. |
HP:0001641 |