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Items: 18

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.

Late onset

A type of adult onset with onset of symptoms after the age of 60 years. [from HPO]

MedGen UID:
871123
Concept ID:
C4025592
Temporal Concept
4.

Onset

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

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
5.

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 GTR]

MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
6.

Pain

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. [from MeSH]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
7.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
8.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
9.

Excitability

MedGen UID:
536361
Concept ID:
C0235169
Sign or Symptom
10.

Mild

Gentle or temperate in nature or degree. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
Qualitative Concept
11.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
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.

Burning pain

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

MedGen UID:
65867
Concept ID:
C0234230
Sign or Symptom
14.

Peripheral Vascular Diseases

Any disorder affecting blood flow through the veins or arteries outside of the heart. [from NCI]

MedGen UID:
38790
Concept ID:
C0085096
Disease or Syndrome
15.

Vascular disorder

A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. [from NCI]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
16.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
17.

Peripheral vascular disease associated with another disorder

MedGen UID:
785542
Concept ID:
C3698278
Disease or Syndrome
18.

Disorder characterized by pain

MedGen UID:
721831
Concept ID:
C1300028
Disease or Syndrome
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