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1.

Erythromelalgia

A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS. [from MeSH]

MedGen UID:
8687
Concept ID:
C0014804
Disease or Syndrome
2.

Inherited Erythromelalgia

MedGen UID:
893359
Concept ID:
CN239438
Disease or Syndrome
3.

Primary erythromelalgia

SCN9A-related inherited erythromelalgia (SCN9A-related IEM) is characterized by recurrent attacks of bilateral and symmetric intense pain, redness, warmth, and swelling involving the feet and, less frequently, the hands. SCN9A-related IEM is not associated with an organic disease. Manifestations may vary within a family. Onset is usually in childhood or adolescence but has been recognized in infants and adults. At onset, episodes are triggered by warmth; other precipitating factors include: exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents. In advanced disease, symptoms may occur many times a day or become constant. Some individuals have allodynia (pain evoked by a normally innocuous stimulus) and hyperalgesia (increased sensitivity to a painful stimulus). Episodes may be disabling, interfere with sleep, and severely limit normal activities such as walking, participation in sports, wearing socks and shoes, and attending school or going to work. [from GeneReviews]

MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
4.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
5.

Pain

Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.  [from MedlinePlus]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
6.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
7.

Severe pain

MedGen UID:
548684
Concept ID:
C0278140
Finding
8.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
9.

Channelopathies

A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. [from MeSH]

MedGen UID:
328427
Concept ID:
C1720983
Disease or Syndrome
10.

Dependence

The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence. [from NCI]

MedGen UID:
141006
Concept ID:
C0439857
Mental or Behavioral Dysfunction
11.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
12.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
13.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
14.

Suffering, Physical

MedGen UID:
148302
Concept ID:
C0751408
Sign or Symptom
15.

Pain, Migratory

MedGen UID:
148301
Concept ID:
C0751407
Sign or Symptom
16.

Crushing pain

A sense of discomfort or distress that is squeezing or excessively compressing. [from NCI]

MedGen UID:
141603
Concept ID:
C0458259
Sign or Symptom
17.

Splitting pain

An intense sensation of discomfort or distress that feels like being cut apart. [from NCI]

MedGen UID:
141602
Concept ID:
C0458257
Sign or Symptom
18.

Ache

A dull persistent (usually moderately intense) pain. [from NCI]

MedGen UID:
115949
Concept ID:
C0234238
Sign or Symptom
19.

Radiating pain

A sensation of discomfort or distress that spreads from one anatomic location to another. [from NCI]

MedGen UID:
68587
Concept ID:
C0234254
Sign or Symptom
20.

Burning pain

A sensation of intensley hot or searing discomfort. [from NCI]

MedGen UID:
65867
Concept ID:
C0234230
Sign or Symptom
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