From HPO
Sudden death- MedGen UID:
- 8257
- •Concept ID:
- C0011071
- •
- Pathologic Function
Rapid and unexpected death.
Sudden cardiac death- MedGen UID:
- 38841
- •Concept ID:
- C0085298
- •
- Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Diffuse palmoplantar hyperkeratosis- MedGen UID:
- 7201
- •Concept ID:
- C0022584
- •
- Disease or Syndrome
Diffuse abnormal thickening of the skin on the palms and soles.
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Cardiac arrhythmia- MedGen UID:
- 2039
- •Concept ID:
- C0003811
- •
- Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Primary dilated cardiomyopathy- MedGen UID:
- 2880
- •Concept ID:
- C0007193
- •
- Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Abnormal heart morphology- MedGen UID:
- 6748
- •Concept ID:
- C0018798
- •
- Congenital Abnormality
Any structural anomaly of the heart.
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Congestive heart failure- MedGen UID:
- 9169
- •Concept ID:
- C0018802
- •
- Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Palpitations- MedGen UID:
- 14579
- •Concept ID:
- C0030252
- •
- Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Paroxysmal ventricular tachycardia- MedGen UID:
- 18315
- •Concept ID:
- C0030591
- •
- Disease or Syndrome
Episodes of ventricular tachycardia that have a sudden onset and ending.
Syncope- MedGen UID:
- 21443
- •Concept ID:
- C0039070
- •
- Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular arrhythmia- MedGen UID:
- 39082
- •Concept ID:
- C0085612
- •
- Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Right bundle branch block- MedGen UID:
- 88445
- •Concept ID:
- C0085615
- •
- Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Premature ventricular contraction- MedGen UID:
- 56236
- •Concept ID:
- C0151636
- •
- Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Prolonged QRS complex- MedGen UID:
- 489828
- •Concept ID:
- C0235475
- •
- Finding
Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
T-wave inversion- MedGen UID:
- 105467
- •Concept ID:
- C0520888
- •
- Finding
An inversion of the T-wave (which is normally positive).
Right ventricular cardiomyopathy- MedGen UID:
- 384481
- •Concept ID:
- C2063326
- •
- Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Abnormal morphology of right ventricular trabeculae- MedGen UID:
- 1615024
- •Concept ID:
- C4531287
- •
- Anatomical Abnormality
Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Acantholysis- MedGen UID:
- 1687
- •Concept ID:
- C0000887
- •
- Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Subungual hyperkeratosis- MedGen UID:
- 21379
- •Concept ID:
- C0038605
- •
- Finding
A thickening of the stratum corneum in the region beneath the nails.
Onycholysis- MedGen UID:
- 39324
- •Concept ID:
- C0085661
- •
- Disease or Syndrome
Detachment of the nail from the nail bed.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Epidermal acanthosis- MedGen UID:
- 65136
- •Concept ID:
- C0221270
- •
- Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Fragile skin- MedGen UID:
- 66826
- •Concept ID:
- C0241181
- •
- Finding
Skin that splits easily with minimal injury.
Wooly hair- MedGen UID:
- 87469
- •Concept ID:
- C0343073
- •
- Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Curly hair- MedGen UID:
- 488919
- •Concept ID:
- C0558165
- •
- Finding
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Sparse body hair- MedGen UID:
- 350775
- •Concept ID:
- C1862863
- •
- Finding
Sparseness of the body hair.
Abnormal blistering of the skin- MedGen UID:
- 412159
- •Concept ID:
- C2132198
- •
- Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Constitutional symptom