Q99.9
BillableChromosomal abnormality, unspecified
Chromosomal abnormality, unspecified
Coding Notes
Excludes 2
Conditions not included here, but the patient may have both
Related Codes(4)
ICD-11 Equivalents(1)
ICD-11 Equivalents
View full mappingCorresponding ICD-11 codes from the WHO crosswalk mapping
Also Known As / Clinical Terms(213)
SNOMED CT
- Autosomal hereditary disorder1899006
- Anomaly of chromosome pair 102893009
- Anomaly of chromosome pair 95051002
- Anomaly of chromosome pair 209839007
- AD - Autosomal dominant11164009
- Autosomal dominant hereditary disorder11164009
- Anomaly of chromosome pair 313674001
- Anomaly of chromosome pair 1516569009
- Anomaly of chromosome pair 1317760001
- Anomaly of chromosome pair 1427183007
- Anomaly of chromosome pair 1732107005
- Anomaly of chromosome pair 232299009
- Anomaly of chromosome pair 737367006
- Anomaly of chromosome pair 1237535007
- Anomaly of chromosome pair 644710007
- Anomaly of chromosome pair 848082007
- Anomaly of chromosome pair 1653392002
- Anomaly of chromosome pair 557361003
- Anomaly of chromosome pair 1859033006
- Anomaly of chromosome pair 1160891003
- Anomaly of chromosome pair 2170156005
- Anomaly of chromosome pair 2270452003
- Anomaly of chromosome74345006
- Chromosomal abnormality syndrome74345006
- Chromosomal hereditary disorder74345006
- Chromosomal imbalance syndrome74345006
- Chromosomopathy74345006
- Congenital chromosomal disease74345006
- Congenital disorder due to abnormality of chromosome number OR structure74345006
- Anomaly of chromosome pair 174769007
- Anomaly of chromosome pair 1979656000
- Anomaly of chromosome pair 484711007
- Autosomal recessive hereditary disorder85995004
- Hereditary disorder trait (autosomal)85995004
- Recessive hereditary disorder (autosomal)85995004
- Dominant autosomal hereditary disorder, complete penetrance86426007
- Dominant autosomal hereditary disorder, incomplete penetrance87006007
- Immunodeficiency associated with chromosomal abnormality234632005
- Autosomal chromosomal disorder403759001
- Chromosomal anomaly409709004
- Chromosomal disorder409709004
- Cardiac arrhythmia associated with genetic disorder698270004
- Schinzel syndrome700211007
- Ulnar mammary syndrome700211007
- Ulnar-mammary syndrome700211007
- ALPS - autoimmune lymphoproliferative syndrome702444009
- Autoimmune lymphoproliferative syndrome702444009
- Canale-Smith syndrome702444009
- Autosomal translocation709418005
- Dementia due to chromosomal anomaly722980006
- Deletion of part of short arm of chromosome 16726388008
- ATR-16 syndrome734349003
- Alpha thalassaemia intellectual disability syndrome, deletion type734349003
- Alpha thalassemia intellectual disability syndrome, deletion type734349003
- Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16734349003
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16734349003
- Genetic disease782964007
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1197361002
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency1197361002
- CTLA-4 haploinsufficiency with autoimmune infiltration disease1197361002
- Dementia due to genetic disease1259476008
- CFTR (cystic fibrosis transmembrane conductance regulator) related disorder1335845008
- CFTR-related disorder1335845008
- Cystic fibrosis transmembrane conductance regulator-related disorder1335845008
UMLS
- Anomaly of chromosomeC0008626
- CHROMOSOMAL DISC0008626
- CHROMOSOME ABNORM DISC0008626
- CHROMOSOME DISC0008626
- Chromosomal DisorderC0008626
- Chromosomal DisordersC0008626
- Chromosomal abnormality NOSC0008626
- Chromosomal abnormality syndromeC0008626
- Chromosomal abnormality, unspecifiedC0008626
- Chromosomal anomaliesC0008626
- Chromosomal anomalyC0008626
- Chromosomal disorderC0008626
- Chromosomal disorder (disorder)C0008626
- Chromosomal hereditary disorderC0008626
- Chromosomal imbalance syndromeC0008626
- Chromosome Abnormality DisorderC0008626
- Chromosome Abnormality DisordersC0008626
- Chromosome DisorderC0008626
- Chromosome DisordersC0008626
- Chromosome abnormalityC0008626
- Chromosome disorderC0008626
- ChromosomopathyC0008626
- Conditions due to anomaly of unspecified chromosomeC0008626
- Congenital chromosomal diseaseC0008626
- Congenital disorder due to abnormality of chromosome number OR structureC0008626
- Congenital disorder due to abnormality of chromosome number OR structure (disorder)C0008626
- Cytogenetic abnormalityC0008626
- Disorder, ChromosomalC0008626
- Disorder, ChromosomeC0008626
- Disorder, Chromosome AbnormalityC0008626
- Disorders, ChromosomalC0008626
- Disorders, ChromosomeC0008626
- abnormalities chromosomesC0008626
- abnormality chromosomalC0008626
- abnormality chromosomeC0008626
- anomalies chromosomeC0008626
- anomalies chromosomesC0008626
- anomaly chromosomalC0008626
- chromosomal abnormalityC0008626
- chromosomal anomaliesC0008626
- chromosomal diseaseC0008626
- chromosomal diseasesC0008626
- chromosomal disorderC0008626
- chromosomal disordersC0008626
- chromosome abnormalityC0008626
- chromosome anomalyC0008626
- chromosome disorderC0008626
- chromosome disordersC0008626
- chromosomes disorderC0008626
- chromosomes disordersC0008626
- diseases chromosomalC0008626
- disorders chromosomeC0008626
Clinical Terms
- Conditions due to anomaly of unspecified chromosome
- Chromosomal disorder (disorder)
- Disorder, Chromosomal
- Anomaly of chromosome pair 11
- Cardiac arrhythmia associated with genetic disorder
- Autosomal dominant hereditary disorder
- Dementia due to chromosomal anomaly
- Anomaly of chromosome pair 19
- ALPS - autoimmune lymphoproliferative syndrome
- Anomaly of chromosome pair 22
- Anomaly of chromosome pair 12
- Hereditary disorder trait (autosomal)
- Anomaly of chromosome pair 15
- Anomaly of chromosome pair 17
- Chromosome Disorders
- CFTR-related disorder
- Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
- Chromosomal Disorders
- Anomaly of chromosome pair 16
- Chromosome Disorder
- anomalies chromosome
- Alpha thalassemia intellectual disability syndrome, deletion type
- Chromosomal disorder
- Congenital chromosomal disease
- Autosomal recessive hereditary disorder
- Autosomal translocation
- Anomaly of chromosome pair 5
- chromosomal anomalies
- Autosomal chromosomal disorder
- Canale-Smith syndrome
- Deletion of part of short arm of chromosome 16
- Anomaly of chromosome pair 9
- Dominant autosomal hereditary disorder, incomplete penetrance
- Anomaly of chromosome pair 18
- CHROMOSOME ABNORM DIS
- Chromosome Abnormality Disorders
- abnormality chromosome
- disorders chromosome
- CTLA-4 haploinsufficiency with autoimmune infiltration disease
- Disorder, Chromosome
- Disorder, Chromosome Abnormality
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency
- abnormalities chromosomes
- Chromosomal abnormality syndrome
- Anomaly of chromosome pair 6
- Cystic fibrosis transmembrane conductance regulator-related disorder
- Autosomal hereditary disorder
- Anomaly of chromosome pair 14
- chromosomal disease
- Anomaly of chromosome pair 8
- Chromosomal hereditary disorder
- chromosomal diseases
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Anomaly of chromosome
- Recessive hereditary disorder (autosomal)
- Anomaly of chromosome pair 13
- chromosomes disorders
- CHROMOSOME DIS
- Congenital disorder due to abnormality of chromosome number OR structure (disorder)
- Anomaly of chromosome pair 2
- Anomaly of chromosome pair 10
- Chromosomal imbalance syndrome
- Chromosomopathy
- Schinzel syndrome
- AD - Autosomal dominant
- Disorders, Chromosomal
- Dominant autosomal hereditary disorder, complete penetrance
- Genetic disease
- CFTR (cystic fibrosis transmembrane conductance regulator) related disorder
- Autoimmune lymphoproliferative syndrome
- chromosomes disorder
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
- Anomaly of chromosome pair 21
- abnormality chromosomal
- Chromosome Abnormality Disorder
- Dementia due to genetic disease
- Alpha thalassaemia intellectual disability syndrome, deletion type
- Chromosomal abnormality NOS
- Congenital disorder due to abnormality of chromosome number OR structure
- Cytogenetic abnormality
- Anomaly of chromosome pair 4
- anomaly chromosomal
- chromosome anomaly
- chromosome abnormality
- diseases chromosomal
- Ulnar mammary syndrome
- anomalies chromosomes
- Anomaly of chromosome pair 7
- Chromosomal anomaly
- ATR-16 syndrome
- Anomaly of chromosome pair 20
- Anomaly of chromosome pair 3
- CHROMOSOMAL DIS
- Ulnar-mammary syndrome
- Anomaly of chromosome pair 1
- Disorders, Chromosome
- Immunodeficiency associated with chromosomal abnormality
Frequently Asked Questions
What is the ICD-10 code for chromosomal abnormality, unspecified?
The ICD-10-CM code for chromosomal abnormality, unspecified is Q99.9. The full clinical description is "Chromosomal abnormality, unspecified". Q99.9 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q99.9 mean?
ICD-10-CM code Q99.9 represents “Chromosomal abnormality, unspecified”. It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.
Is Q99.9 a billable code?
Yes, Q99.9 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q99.9 in?
Q99.9 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What SNOMED CT codes does Q99.9 map to?
Q99.9 maps to 42 SNOMED CT concepts: 11164009, 702444009, 734349003, 74345006, 74769007, and 37 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q99.9?
Q99.9 is linked to 1 UMLS Concept Unique Identifier: C0008626. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q99.9 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like chromosomal abnormality, unspecified affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.
What is the ICD-11 equivalent of Q99.9?
Q99.9 maps to the ICD-11 code: LD7Z (Chromosomal anomalies, excluding gene mutations, unspecified).
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.