From HPO
Neoplasm- MedGen UID:
- 10294
- •Concept ID:
- C0027651
- •
- Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Truncal obesity- MedGen UID:
- 1637490
- •Concept ID:
- C4551560
- •
- Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Anxiety- MedGen UID:
- 1613
- •Concept ID:
- C0003467
- •
- Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression- MedGen UID:
- 4229
- •Concept ID:
- C0011581
- •
- Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Psychotic disorder- MedGen UID:
- 19568
- •Concept ID:
- C0033975
- •
- Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Agitation- MedGen UID:
- 88447
- •Concept ID:
- C0085631
- •
- Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
Emotional lability- MedGen UID:
- 39319
- •Concept ID:
- C0085633
- •
- Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Mental deterioration- MedGen UID:
- 66713
- •Concept ID:
- C0234985
- •
- Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
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.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Striae distensae- MedGen UID:
- 57541
- •Concept ID:
- C0152459
- •
- Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Thin skin- MedGen UID:
- 140848
- •Concept ID:
- C0423757
- •
- Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Macronodular adrenal hyperplasia- MedGen UID:
- 137971
- •Concept ID:
- C0342495
- •
- Finding
Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.
Adrenal hyperplasia- MedGen UID:
- 301220
- •Concept ID:
- C1621895
- •
- Disease or Syndrome
Enlargement of the adrenal gland.
Increased circulating cortisol level- MedGen UID:
- 871175
- •Concept ID:
- C4025651
- •
- Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Primary hypercortisolism- MedGen UID:
- 892570
- •Concept ID:
- C4025760
- •
- Disease or Syndrome
Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
Decreased circulating ACTH concentration- MedGen UID:
- 1841520
- •Concept ID:
- C5826343
- •
- Finding
The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality
- Neoplasm