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Items: 5

1.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Finding; Neoplastic Process
2.

Van der Woude syndrome

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]

MedGen UID:
61233
Concept ID:
C0175697
Congenital Abnormality; Disease or Syndrome
3.

Sepsis

Sepsis is a life-threatening illness. Your body's response to a bacterial infection usually causes it. Your immune system goes into overdrive, overwhelming normal processes in your blood. The result is that small blood clots form, blocking blood flow to vital organs. This can lead to organ failure. Babies, old people and those with weakened immune systems are most likely to get sepsis. But even healthy people can become deathly ill from it. A quick diagnosis can be crucial, because one third of people who get sepsis die from it. Sepsis is usually treated in a hospital intensive care unit (ICU). IV antibiotics and fluids may be given to try to knock out the infection and to keep blood pressure from dropping too low. Patients may also need respirators to help them breathe.  [from MedlinePlus]

MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
4.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
5.

Bacterial toxic-shock syndrome

in streptococcal TSS (see this term). [from ORDO]

MedGen UID:
799047
Concept ID:
CN204669
Disease or Syndrome
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