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Items: 19

1.

Mass of body structure

A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
2.

Becker muscular dystrophy

The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [from GeneReviews]

MedGen UID:
182959
Concept ID:
C0917713
Disease or Syndrome
3.

Vitelliform macular dystrophy type 2

Best vitelliform macular dystrophy is a slowly progressive macular dystrophy with onset generally in childhood and sometimes in later teenage years. Affected individuals initially have normal vision followed by decreased central visual acuity and metamorphopsia. Individuals retain normal peripheral vision and dark adaptation. Age of onset and severity of vision loss show inter- and intrafamilial variability. [from GeneReviews]

MedGen UID:
137920
Concept ID:
C0339510
Disease or Syndrome
4.

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
5.

Mediator brand of benfluorex hydrochloride

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
6.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
7.

Growth Hormone

A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. [from MeSH]

MedGen UID:
20836
Concept ID:
C0037663
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
8.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
9.

Increased body weight

A change in overall body weight, relative to the beginning of the collection period. [from NCI_CDISC]

MedGen UID:
12145
Concept ID:
C0043094
Finding
10.

Hormones, Hormone Substitutes, and Hormone Antagonists

A collective grouping for both naturally occurring and synthetic hormones, substitutes, and antagonists. [from MeSH]

MedGen UID:
6887
Concept ID:
C0019934
Pharmacologic Substance
11.

Weight change

A clinical manifestation consisting of alterations in an individual's weight from his or her norm. [from MeSH]

MedGen UID:
2305
Concept ID:
C0005911
Finding
12.

Mass of spleen

MedGen UID:
844838
Concept ID:
C3670837
Finding
13.

Lower urinary tract finding

MedGen UID:
713953
Concept ID:
C1291662
Finding
14.

Size of liver - finding

MedGen UID:
710234
Concept ID:
C1287779
Finding
15.

Bone density finding

MedGen UID:
696348
Concept ID:
C1272809
Finding
16.

Finding of size of kidney

MedGen UID:
660719
Concept ID:
C0577168
Finding
17.

Finding of blood, lymphatics and immune system

MedGen UID:
660067
Concept ID:
C0576449
Finding
18.

Spleen finding

MedGen UID:
605098
Concept ID:
C0426696
Finding
19.

Growth hormone receptor absent

MedGen UID:
575110
Concept ID:
C0342576
Finding
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