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Results: 11

1.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

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

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Congenital Abnormality
3.

Abnormality of the urinary system

An abnormality of the `urinary system` (FMA:7159). [from HPO]

MedGen UID:
427792
Concept ID:
CN000079
Finding
4.

Prune belly

A kind of congenital defect of the anterior `abdominal wall` (FMA:259054) in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. [from HPO]

MedGen UID:
505622
Concept ID:
CN003890
Finding
5.

Urethral obstruction

Obstruction of the flow of urine through the `urethra` (FMA:19667). [from HPO]

MedGen UID:
504603
Concept ID:
CN000744
Finding
6.

Hydroureter

The distention of the `ureter` (FMA:9704) with urine. [from HPO]

MedGen UID:
504329
Concept ID:
CN000072
Finding
7.

Prune belly

MedGen UID:
472213
Concept ID:
CN130135
Finding
8.

Ectopic kidney

MedGen UID:
349829
Concept ID:
C1860492
Finding
9.

Hydroureter

Abnormal enlargement of the ureter caused by any blockage that prevents urine from draining into the bladder. [from NCI]

MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
10.

Ectopic kidney

MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
11.

Prune belly syndrome

In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011). [from OMIM]

MedGen UID:
18718
Concept ID:
C0033770
Disease or Syndrome

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