From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Failure to thrive in infancy- MedGen UID:
- 358083
- •Concept ID:
- C1867873
- •
- Finding
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Periostitis- MedGen UID:
- 45816
- •Concept ID:
- C0031111
- •
- Disease or Syndrome
Inflammation of the periosteum
Joint swelling- MedGen UID:
- 56258
- •Concept ID:
- C0152031
- •
- Finding
The presence of swelling in a joint.
Broad ribs- MedGen UID:
- 336390
- •Concept ID:
- C1848654
- •
- Finding
Increased width of ribs
Flaring of rib cage- MedGen UID:
- 381496
- •Concept ID:
- C1854780
- •
- Finding
The presence of wide, concave anterior rib ends.
Fused cervical vertebrae- MedGen UID:
- 854386
- •Concept ID:
- C3887527
- •
- Congenital Abnormality
A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Osteolysis- MedGen UID:
- 1648424
- •Concept ID:
- C4721411
- •
- Pathologic Function
Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Abscess- MedGen UID:
- 1684
- •Concept ID:
- C0000833
- •
- Disease or Syndrome
An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.
Osteomyelitis- MedGen UID:
- 10497
- •Concept ID:
- C0029443
- •
- Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Stomatitis- MedGen UID:
- 52511
- •Concept ID:
- C0038362
- •
- Disease or Syndrome
Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Neutrophilia- MedGen UID:
- 57729
- •Concept ID:
- C0151683
- •
- Finding
Increased number of neutrophils circulating in blood.
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.
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.
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.
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).
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.
Fetal distress- MedGen UID:
- 5164
- •Concept ID:
- C0015930
- •
- Pathologic Function
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom
- Growth abnormality