From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Raynaud phenomenon- MedGen UID:
- 20474
- •Concept ID:
- C0034735
- •
- Disease or Syndrome
An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytosis- MedGen UID:
- 163397
- •Concept ID:
- C0836924
- •
- Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Joint stiffness- MedGen UID:
- 56403
- •Concept ID:
- C0162298
- •
- Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Tachypnea- MedGen UID:
- 66669
- •Concept ID:
- C0231835
- •
- Finding
Very rapid breathing.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Myositis disease- MedGen UID:
- 44564
- •Concept ID:
- C0027121
- •
- Disease or Syndrome
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.\n\nThe primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).\n\nThere are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.\n\nPolymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.\n\nIn sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.\n\nPolymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).
Pustular rash- MedGen UID:
- 43222
- •Concept ID:
- C0085641
- •
- Sign or Symptom
A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis
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.
Increased circulating IgA concentration- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Pustule- MedGen UID:
- 488804
- •Concept ID:
- C0241157
- •
- Finding
A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
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.
Paratracheal lymphadenopathy- MedGen UID:
- 636204
- •Concept ID:
- C0520744
- •
- Disease or Syndrome
Enlargement of lymph nodes surrounding the trachea.
Increased circulating IgG concentration- MedGen UID:
- 347032
- •Concept ID:
- C1858977
- •
- Finding
An abnormally increased level of immunoglobulin G in blood.
Follicular hyperplasia- MedGen UID:
- 863170
- •Concept ID:
- C4014733
- •
- Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Antiphospholipid antibody positivity- MedGen UID:
- 866404
- •Concept ID:
- C4019436
- •
- Finding
The presence of circulating autoantibodies to phospholipids.
Cytoplasmic antineutrophil antibody positivity- MedGen UID:
- 1690999
- •Concept ID:
- C5139210
- •
- Finding
The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of 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.
Nasal septum perforation- MedGen UID:
- 452298
- •Concept ID:
- C0235761
- •
- Anatomical Abnormality
A full-thickness defect of the nasal septum.
Telangiectasia- MedGen UID:
- 21088
- •Concept ID:
- C0039446
- •
- Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Livedo reticularis- MedGen UID:
- 43223
- •Concept ID:
- C0085642
- •
- Disease or Syndrome
Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.
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.
Cutis marmorata- MedGen UID:
- 78093
- •Concept ID:
- C0263401
- •
- Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Periungual erythema- MedGen UID:
- 1720689
- •Concept ID:
- C1963964
- •
- Sign or Symptom
Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.
Nailfold capillary tortuosity- MedGen UID:
- 863168
- •Concept ID:
- C4014731
- •
- Finding
An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
- 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
- Growth abnormality