From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Fatigue- MedGen UID:
- 41971
- •Concept ID:
- C0015672
- •
- Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Night sweats- MedGen UID:
- 10351
- •Concept ID:
- C0028081
- •
- Sign or Symptom
Occurrence of excessive sweating during sleep.
Myelodysplasia- MedGen UID:
- 10231
- •Concept ID:
- C0026985
- •
- Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Arteritis- MedGen UID:
- 13916
- •Concept ID:
- C0003860
- •
- Pathologic Function
Arterial inflammation.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Macrocytic anemia- MedGen UID:
- 1920
- •Concept ID:
- C0002886
- •
- Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Thromboembolism- MedGen UID:
- 21532
- •Concept ID:
- C0040038
- •
- Pathologic Function
The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Deep venous thrombosis- MedGen UID:
- 57448
- •Concept ID:
- C0149871
- •
- Disease or Syndrome
Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
Erythroid dysplasia- MedGen UID:
- 459714
- •Concept ID:
- C2987488
- •
- Finding
Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.
Megakaryocyte dysplasia- MedGen UID:
- 1611304
- •Concept ID:
- C4540467
- •
- Finding
The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Nasal chondritis- MedGen UID:
- 1720694
- •Concept ID:
- C0151219
- •
- Disease or Syndrome
Inflammation of the cartilage of the nose.
Pulmonary infiltrates- MedGen UID:
- 116009
- •Concept ID:
- C0235896
- •
- Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Chondritis of pinna- MedGen UID:
- 488931
- •Concept ID:
- C0741305
- •
- Pathologic Function
Inflammation of the cartilage of the external ear.
Inflammatory abnormality of the skin- MedGen UID:
- 849741
- •Concept ID:
- C3875321
- •
- Disease or Syndrome
The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Autoimmune antibody positivity- MedGen UID:
- 868268
- •Concept ID:
- C4022660
- •
- Finding
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Neutrophilic infiltration of the skin- MedGen UID:
- 1620481
- •Concept ID:
- C4531258
- •
- Anatomical Abnormality
A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Skin plaque- MedGen UID:
- 69134
- •Concept ID:
- C0241148
- •
- Finding
A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Constitutional symptom
- Ear malformation
- Neoplasm