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Table 1 Determination of disease categories with genetic background in the hospitalized children along with clinical examples.

From: Frequency of genetic diseases and health coverage of children requiring admission in a general pediatric clinic of northern Greece

Category

Definition

Examples

1

Underlying conditions with strong genetic basis

 

1A

Single-gene or chromosomal

Hemophilia, thalassemia, ataxia telangiectasia, Down's syndrome, cystic fibrosis

1B

Multifactorial/polygenic

Hydrocephaly, congenital hydronephrosis

1C

Heterogeneous causes, often of a genetic basis

Psychomotor retardation, megalocephaly, microcephaly, mental retardation

2

Birth defects without known genetic basis

 

2A

Malformation of unknown etiology

-

2B

Teratogenic disorders

-

3

Acquired disorders with genetic predisposition

Diabetes mellitus, asthma