From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Vasculitis in the skin- MedGen UID:
- 488809
- •Concept ID:
- C0262988
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Atelectasis- MedGen UID:
- 13946
- •Concept ID:
- C0004144
- •
- Pathologic Function
Collapse of part of a lung associated with absence of inflation (air) of that part.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Chilblains- MedGen UID:
- 886
- •Concept ID:
- C0008058
- •
- Injury or Poisoning
Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Rheumatoid factor positive- MedGen UID:
- 56226
- •Concept ID:
- C0151379
- •
- Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Malar rash- MedGen UID:
- 75808
- •Concept ID:
- C0277942
- •
- Finding
An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Reduced circulating CH50 activity- MedGen UID:
- 1380457
- •Concept ID:
- C4476774
- •
- Finding
A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
Anti-Sm antibody positivity- MedGen UID:
- 1755112
- •Concept ID:
- C5421567
- •
- Finding
The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.
Extractable nuclear antigen positivity- MedGen UID:
- 1785652
- •Concept ID:
- C5539626
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.
Discoid lupus erythematosus- MedGen UID:
- 1811126
- •Concept ID:
- C5574816
- •
- Disease or Syndrome
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
Decreased circulating C1q concentration- MedGen UID:
- 1841603
- •Concept ID:
- C5826513
- •
- Finding
Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.
Pneumocystis carinii pneumonia- MedGen UID:
- 994080
- •Concept ID:
- CN315554
- •
- Finding
Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.
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.
Persistent fever- MedGen UID:
- 1720688
- •Concept ID:
- C0476474
- •
- Pathologic Function
Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.
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.
Oral ulcer- MedGen UID:
- 57699
- •Concept ID:
- C0149745
- •
- Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Facial erythema- MedGen UID:
- 65986
- •Concept ID:
- C0239488
- •
- Finding
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- 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