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1.

Sarcoma

Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
2.

Hypoplastic right heart; intrauterine growth retardation

MedGen UID:
850712
Concept ID:
CN231400
Finding
3.

Hypoplastic right heart; tricuspid atresia; muscular ventricular septal defect; single umbilical artery

MedGen UID:
850701
Concept ID:
CN231394
Finding
4.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
5.

Low Grade Fibromyxoid Sarcoma

A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. [from NCI]

MedGen UID:
224814
Concept ID:
C1275282
Neoplastic Process
6.

Neoplasm

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 (tumour). [from HPO]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
7.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
8.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
9.

Rare tumor

MedGen UID:
797427
Concept ID:
CN206956
Disease or Syndrome
10.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
11.

Aspiration

Inspiration of a foreign object into the airway. [from HPO]

MedGen UID:
751786
Concept ID:
C2712334
Finding
12.

Cavity

MedGen UID:
734294
Concept ID:
C1510420
Anatomical Abnormality
13.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
14.

Aspiration

Inspiration of a foreign object into the airway. [from HPO]

MedGen UID:
472619
Concept ID:
C0700198
Pathologic Function
15.

Lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. (NCI) [from NCI_CDISC]

MedGen UID:
65128
Concept ID:
C0221198
Finding
16.

Spindle Cell Sarcoma

A type of connective tissue cancer in which the cells are spindle-shaped when examined under a microscope. [from NCI_NCI-GLOSS]

MedGen UID:
64477
Concept ID:
C0205945
Neoplastic Process
17.

Proximal

Localized close to the central point of the body. [from HPO]

MedGen UID:
64374
Concept ID:
C0205107
Spatial Concept
18.

Epithelioid Sarcoma

An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
19.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
20.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
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