Genetic carrier (Z14)
ICD-10 code Z14 designates individuals identified as genetic carriers of specific inherited diseases, which means they carry a gene mutation that can be passed to offspring but may not exhibit symptoms themselves. This category includes detailed codes for carriers of conditions like hemophilia A and cystic fibrosis.
The ICD-10 code for genetic carrier includes Z14.0 for general hemophilia A carriers, with further subdivisions such as Z14.01 for asymptomatic hemophilia A carriers; also known as "hemophilia carrier" or "carrier of hereditary factor VIII deficiency disease"; and Z14.02 for symptomatic carriers. The code Z14.1 is specifically for carriers of the cystic fibrosis gene mutation, useful for identifying individuals carrying the genetic risk without active disease. The broad code Z14.8 covers carriers of other genetic conditions, encompassing a wide range of hereditary disorders like muscular dystrophies, fragile X syndrome, thalassemias, and inherited cancer predispositions. Using these codes helps healthcare providers accurately document genetic carrier status to support patient care and genetic counseling.
Clinical Terms
The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.
Fragile X Syndrome
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
