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- Heterotaxy: (synonym - situs ambiguus) Abnormal distribution or placement of the chest and abdominal organs.
- Heterozygote: An individual who has two different alleles at a particular locus one on each chromosome of a pair; one allele is usually normal and the other abnormal.
- Homozygote: An individual who has two identical alleles at a particular locus, one on each chromosome of a pair.
- Hydrocephalus: Abnormal increase in cerebrospinal fluid that surrounds the brain which increases the size of the head.
- Hypercapnia: Elevated carbon dioxide level in the blood leading to increased acid concentrations (acidosis).
- Hypoxemia: Inadequate (low) oxygen level in the blood.