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Items: 10

1.

Interlabial Escape; No Progression to Anterior Lip

A finding of interlabial escape during swallowing, but no progression to anterior lip. [from NCI]

MedGen UID:
926412
Concept ID:
C4288880
Finding
2.

Trisomy

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. [from NCI]

MedGen UID:
21702
Concept ID:
C0041107
Cell or Molecular Dysfunction
3.

Pulmonary interstitial glycogenosis

Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term). [from ORDO]

MedGen UID:
798843
Concept ID:
CN201153
Finding
4.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
5.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
6.

Anomaly of sex chromosome

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. [from MeSH]

MedGen UID:
19948
Concept ID:
C0036868
Congenital Abnormality; Disease or Syndrome
7.

Chromosomal anomaly

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. [from MeSH]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
8.

Aneuploidy

A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24). [from NCI]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
9.

Agenesis of canine

Agenesis of canine tooth. [from HPO]

MedGen UID:
866725
Concept ID:
C4021072
Anatomical Abnormality
10.

Partial duplication of chromosome X

MedGen UID:
832699
Concept ID:
CN227068
Finding
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