Short answer · Medically reviewed summary · Last updated: 2026-05-08
1p36 Deletion Syndrome does not have a unique, disease-specific ICD-10 or ICD-9 code. Clinicians typically use the code Q93.5 (Other deletions of part of a chromosome) in ICD-10 or 758.39 (Other deletions of part of a chromosome) in ICD-9 to classify this genetic condition in medical records. What is the clinical significance of 1p36 Deletion Syndrome? 1p36 Deletion Syndrome is a congenital genetic disorder caused by a partial deletion of the short arm of chromosome 1.
ICD10 code of 1p36 Deletion Syndrome and ICD9 code
ICD-10 and ICD-9 codes for 1p36 Deletion Syndrome, with classification details for clinicians, coders and patients.
1p36 Deletion Syndrome does not have a unique, disease-specific ICD-10 or ICD-9 code. Clinicians typically use the code Q93.5 (Other deletions of part of a chromosome) in ICD-10 or 758.39 (Other deletions of part of a chromosome) in ICD-9 to classify this genetic condition in medical records.
What is the clinical significance of 1p36 Deletion Syndrome?
1p36 Deletion Syndrome is a congenital genetic disorder caused by a partial deletion of the short arm of chromosome 1. It is estimated to occur in approximately 1 in 5,000 to 10,000 live births. Because 1p36 Deletion Syndrome results in a wide range of developmental delays, intellectual disabilities, and characteristic facial features, it is often documented under broader chromosomal deletion codes for billing and diagnostic tracking purposes.
How is 1p36 Deletion Syndrome diagnosed?
Diagnosis of 1p36 Deletion Syndrome is primarily confirmed through chromosomal microarray (CMA) testing or fluorescence in situ hybridization (FISH). These tests identify the specific loss of genetic material at the 1p36 locus. Given that 22 people with 1p36 Deletion Syndrome are active on DiseaseMaps.org, we recognize the importance of early genetic testing to access appropriate early intervention therapies and specialized care pathways.
What are the common medical features of 1p36 Deletion Syndrome?
While every individual's journey is unique, the following clinical findings are frequently associated with 1p36 Deletion Syndrome:
- Severe to profound intellectual disability and speech delay.
- Structural brain abnormalities and epilepsy (occurring in over 75% of patients).
- Distinctive craniofacial features, such as deep-set eyes and a pointed chin.
- Congenital heart defects, most commonly cardiomyopathy or structural anomalies.
- Hypotonia (low muscle tone) and feeding difficulties in infancy.
Next steps
- Consult with a clinical geneticist to confirm your diagnosis and understand the specific size and location of the deletion.
- Request a referral to a pediatric neurologist to manage potential seizure activity associated with 1p36 Deletion Syndrome.
- Connect with the 22 community members on DiseaseMaps.org to share experiences and coping strategies.
- Contact organizations like the 1p36 Deletion Support & Awareness group for family resources.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.
References
- NIH Genetic and Rare Diseases Information Center (GARD): 1p36 deletion syndrome.
- Orphanet: 1p36 deletion syndrome (ORPHA:96129).
- OMIM (Online Mendelian Inheritance in Man): #607872 - 1p36.33 Deletion Syndrome.
- 1p36 Deletion Support & Awareness (1p36dsa.org).
