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Items: 15

1.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
3.

Bowing of legs, anterior with dwarfism

The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009). [from GTR]

MedGen UID:
350610
Concept ID:
C1862172
Disease or Syndrome
4.

Periodic

Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length. [from HPO]

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
5.

Symptom

Subjective evidence of disease perceived by the patient. [from NCI]

MedGen UID:
306142
Concept ID:
C1457887
Sign or Symptom
6.

Positive

Involving advantage or good. [from NCI]

MedGen UID:
254858
Concept ID:
C1446409
Finding
7.

Sign

Objective evidence of disease perceptible to the examining healthcare provider. [from NCI]

MedGen UID:
137150
Concept ID:
C0311392
Finding
8.

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
9.

Problem

A difficulty, disorder, or condition needing resolution. [from NCI]

MedGen UID:
46106
Concept ID:
C0033213
Finding
10.

Mycosis

An infection caused by a fungus. [from NCI]

MedGen UID:
6486
Concept ID:
C0026946
Disease or Syndrome
11.

Disease

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. [from MeSH]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
12.

Bacterial Infections and Mycoses

Infections caused by bacteria and fungi, general, specified, or unspecified. [from MeSH]

MedGen UID:
2161
Concept ID:
C0004615
Disease or Syndrome
13.

Autoinflammation with infantile enterocolitis

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014). [from GTR]

MedGen UID:
863504
Concept ID:
C4015067
Disease or Syndrome
14.

Sign or Symptom

Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom). [from NCI]

MedGen UID:
761917
Concept ID:
C3540840
Finding
15.

Mass of nose

MedGen UID:
196658
Concept ID:
C0746765
Finding
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