From HPO
Acute myeloid leukemia- MedGen UID:
- 9730
- •Concept ID:
- C0023467
- •
- Neoplastic Process
A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification)
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.
Nephrocalcinosis- MedGen UID:
- 10222
- •Concept ID:
- C0027709
- •
- Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Coxa vara- MedGen UID:
- 1790477
- •Concept ID:
- C5551440
- •
- Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Myocardial necrosis- MedGen UID:
- 254841
- •Concept ID:
- C1442837
- •
- Disease or Syndrome
Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Steatorrhea- MedGen UID:
- 20948
- •Concept ID:
- C0038238
- •
- Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Specific learning disability- MedGen UID:
- 871302
- •Concept ID:
- C4025790
- •
- Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Persistence of hemoglobin F- MedGen UID:
- 68693
- •Concept ID:
- C0239941
- •
- Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Slipped femoral capital epiphyses- MedGen UID:
- 57704
- •Concept ID:
- C0149887
- •
- Disease or Syndrome
Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.
Metaphyseal chondrodysplasia- MedGen UID:
- 120528
- •Concept ID:
- C0265290
- •
- Congenital Abnormality
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Narrow chest- MedGen UID:
- 96528
- •Concept ID:
- C0426790
- •
- Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Narrow greater sciatic notch- MedGen UID:
- 154353
- •Concept ID:
- C0566888
- •
- Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Proximal femoral metaphyseal irregularity- MedGen UID:
- 324485
- •Concept ID:
- C1836320
- •
- Finding
Irregularity of the normally smooth surface of the proximal metaphysis of the femur.
Anterior rib cupping- MedGen UID:
- 337520
- •Concept ID:
- C1846154
- •
- Finding
Wide, concave anterior rib end.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Irregular ossification at anterior rib ends- MedGen UID:
- 376700
- •Concept ID:
- C1850083
- •
- Finding
Ovoid vertebral bodies- MedGen UID:
- 344549
- •Concept ID:
- C1855665
- •
- Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Enlargement of the costochondral junction- MedGen UID:
- 346535
- •Concept ID:
- C1857180
- •
- Finding
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Metaphyseal sclerosis- MedGen UID:
- 765440
- •Concept ID:
- C3552526
- •
- Finding
Abnormally increased density of metaphyseal bone.
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.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality
- Neoplasm