2024 ICD-10-CM Diagnosis Code D56.2
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- ^A^gamma delta beta^0^ thalassemia
- Beta zero thalassemia
- Beta zero thalassemia
- Beta zero thalassemia
- Beta zero thalassemia
- Delta beta thalassemia
- Delta beta thalassemia
- Delta beta zero thalassemia
- Delta beta zero thalassemia
- Delta thalassemia
- Delta zero thalassemia
- Delta-beta-Lepore thalassemia
- Epsilon gamma delta beta thalassemia
- Epsilon gamma delta beta^0^ thalassemia
- Gamma delta beta thalassemia
- Sickle cell-beta-thalassemia
- Sickle cell-delta beta^0^-thalassemia
- Sickle cell-thalassemia disease
- Thalassemia with other hemoglobinopathy
Clinical Category is Hemolytic anemia
- CCSR Category Code: BLD002
- Inpatient Default CCSR: Y - Yes, default inpatient assignment for principal diagnosis or first-listed diagnosis.
- Outpatient Default CCSR: Y - Yes, default outpatient assignment for principal diagnosis or first-listed diagnosis.
alpha-Thalassemiaa disorder characterized by reduced synthesis of the alpha chains of hemoglobin. the severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
beta-Thalassemiaa disorder characterized by reduced synthesis of the beta chains of hemoglobin. there is retardation of hemoglobin a synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, cooley's anemia, mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin a synthesis is absent.
Thalassemiaa group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. there are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Alpha Thalassemiaa genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.
Alpha Thalassemia Silent Carriera condition in which a person has reduced protein production from one of the four alpha-globin alleles.
Alpha Thalassemia Traita condition in which a person has reduced protein production from two of the four alpha-globin alleles.
Alpha Thalassemia X-Linked Mental Retardation Syndrome|ATRX|Alpha Thalassemia/Mental Retardation Syndrome X-Linkeda rare, x-linked recessive inherited syndrome caused by mutations in the atrx gene. it is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia.
ATRX Gene Mutation Negative|ATRX Mutation Negative|ATRX Wild-Type|ATRX Wildtype|ATRX wt|ATRX, Chromatin Remodeler Gene Mutation Negative|Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation Negative|Negative|No|RAD54 Gene Mutation Negative|RAD54 Homolog Gene Mutation|RAD54L Gene Mutation Negative|XH2 Gene Mutation Negative|XNP Gene Mutation Negative|ZNF-HX Gene Mutation Negativea genetic finding indicating that atrx gene mutations have not been detected in a sample.
ATRX Gene Mutation|ATRX|ATRX, Chromatin Remodeler Gene Mutation|Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation|Positive|RAD54 Gene Mutation|RAD54 Homolog Gene Mutation|RAD54L Gene Mutation|XH2 Gene Mutation|XNP Gene Mutation|Yes|ZNF-HX Gene Mutationa change in the nucleotide sequence of the atrx gene.
ATRX Mutation Analysis|ATRX Gene Mutation Analysis|ATRX Mutation Status|ATRX, Chromatin Remodeler Mutation Analysis|Alpha Thalassemia/Mental Retardation Syndrome X-Linked Mutation Analysis|RAD54 Homolog Mutation Analysis|RAD54 Mutation Analysis|RAD54L Mutation Analysis|XH2 Mutation Analysis|XNP Mutation Analysis|ZNF-HX Mutation Analysisa procedure used to detect and identify mutations in the alk gene.
ATRX Mutation Status by Sequencing|ATRX Sequencing|Alpha Thalassemia/Mental Retardation Syndrome X-Linked Mutation Analysis by Sequencing|RAD54 Homolog Mutation Analysis by Sequencing|RAD54 Mutation Analysis by Sequencing|RAD54L Mutation Analysis by Sequencing|XH2 Mutation Analysis by Sequencing|XNP Mutation Analysis by Sequencing|ZNF-HX Mutation Analysis by Sequencingan indication that the presence or absence of atrx gene mutations was determined using sequencing techniques.
ATRX wt Allele|ATR-X Gene|ATR2|ATRX, Chromatin Remodeler wt Allele|Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 (S. cerevisiae) Homolog) Gene|Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 Homolog, S. cerevisiae) Gene|Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene|Helicase 2, X-Linked Gene|Juberg-Marsidi Syndrome Gene|MGC2094|MRXHF1|Mental Retardation, X-Linked 52 Gene|RAD54|RAD54 Homolog (S. cerevisiae) Gene|RAD54L|SFM1|SHS|X-Linked Nuclear Protein Gene|XH2|XNP|ZNF-HXhuman atrx wild-type allele is located within xq13.1-q21.1 and is approximately 281 kb in length. this allele, which encodes transcriptional regulator atrx protein, is involved in the modulation of both transcription and chromatin structure. mutations in the gene are associated with x-linked alpha-thalassemia/mental retardation syndrome, mental retardation syndromic x-linked with hypotonic facies syndrome type 1, and alpha-thalassemia myelodysplasia syndrome.
Beta Thalassemia Major|Cooley Anemia|Cooley's Anemiathe most severe form of beta thalassemia that is characterized by the lack of functional beta-globin chain production resulting in the absence of hemoglobin a.
Beta Thalassemia Plus Structural Variantsa heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele.
Beta Thalassemia|Thalassemia Majoran autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. anemia and failure to thrive are characteristic features.
Betibeglogene Autotemcel|Autologous CD34+ Cells Encoding beta-A-T87Q-globin Gene|Autologous CD34+ HSCs Transduced with LentiGlobin BB305|Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo with Betibeglogene Darolentivec|BETIBEGLOGENE AUTOTEMCEL|LentiGlobin BB305 Drug Product for TDT|LentiGlobin BB305 Lentiviral Vector-transduced Autologous CD34+ HSCs|LentiGlobin BB305-transduced CD34-positive Cells|LentiGlobin Drug Product for Transfusion Dependent beta-Thalassemia|Lentiviral b-A(T87Q)-Globin-transduced CD34-positive Cells|Zyntegloa preparation of autologous, cd34-positive hematopoietic stem cells (hscs) transduced ex vivo with the bb305 recombinant replication-defective, self-inactivating lentiviral vector encoding for an engineered form of human beta-globin (hemoglobin-beta, hbb) gene, beta-a-t87q (b-a-t87q) where the threonine at position 87 has been substituted with glutamine, with potential to restore beta-globin expression and function. autologous cd34-positive stem cells are isolated from the patient's own bone marrow and the cells are transduced with the lentiviral vector. upon re-infusion of betibeglogene autotemcel back into the patient, these cells express b-a-t87q-globin, thereby allowing the body to make normal hemoglobin and thus normal, healthy red blood cells. beta-globin, the beta-chain of the most common form of hemoglobin, is encoded by the hbb gene; mutations in this gene prevent normal beta-globin production and are associated with beta-thalassemia and sickle cell anemia. the b-a-t87q form of beta-globin has increased antisickling activity compared to the wild type protein.
Deleterious ATRX Gene Mutation|Deleterious ATRX Mutation|Deleterious ATRX, Chromatin Remodeler Gene Mutation|Deleterious Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation|Deleterious RAD54 Gene Mutation|Deleterious RAD54 Homolog Gene Mutation|Deleterious RAD54L Gene Mutation|Deleterious XH2 Gene Mutation|Deleterious XNP Gene Mutation|Deleterious ZNF-HX Gene Mutationa change in the nucleotide sequence of the atrx gene that is associated with increased risk of disease.
Delta-Beta Thalassemia|Delta Beta 0 Thalassemia|Hb delta beta0 Thalassemiaa form of beta thalassemia characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. this disorder results in a microcytic anemia that is clinically mild.
Inactivating ATRX Gene Mutation|ATRX Gene Inactivation|ATRX Loss of Function Gene Mutation|ATRX Loss of Function Mutation|Inactivating ATRX Mutation|Inactivating ATRX, Chromatin Remodeler Gene Mutation|Inactivating Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation|Inactivating RAD54 Gene Mutation|Inactivating RAD54 Homolog Gene Mutation|Inactivating RAD54L Gene Mutation|Inactivating XH2 Gene Mutation|Inactivating XNP Gene Mutation|Inactivating ZNF-HX Gene Mutation|Loss of Function ATRX Gene Mutation|Loss of Function ATRX Mutationa change in the nucleotide sequence of the atrx gene that either inhibits expression or results in the translation of an inactive transcriptional regulator atrx protein.
Rapid Screening Method for Alpha Thalassemiascreening techniques for alpha thalassemia that use melting curve analysis of pcr products generated from the alpha globin alleles.
S-Beta Thalassemiaa disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. this inherited autosomal recessive blood disorder is caused by germline mutation of the hbb gene.
Sickle Beta 0 Thalassemia|Hb S Beta 0 Thalassemia|Hemoglobin S Beta 0 Thalassemia|S Beta 0 Thalassemia|Sickle Beta Zero Thalassemiaa form of sickle cell thalassemia characterized by the absence of hemoglobin a. patients usually have severe anemia identical to that seen in sickle cell disease.
Sickle Beta Plus Thalassemia|Sickle B+ Thalassemiaa mild form of sickle cell thalassemia characterized by the presence of hemoglobin s and a small amount of hemoglobin a in the red blood cells. it is characterized by the presence of small red blood cells and mild anemia.
Sickle Beta Thalassemia|Hb S-Beta Thalassemia|S-Beta Thalassemia|Sickle Cell-Beta Thalassemia|Sickle Cell-Beta-Thalassemiaa heterozygous state in which a person has a hemoglobin s allele along with a beta-thalassemia allele. the severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.
Sickle Cell-Thalassemia|Sickle Cell Thalassemiahemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene.
Thalassemiaan inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. anemia results from this abnormal hemoglobin formation.
Thalassemic Osteopathy|Thalassemia Bone Disease|Thalassemic Bone Diseasebone disorders that present in thalassemia patients.
Transfusion Dependent Beta Thalassemia|Transfusion-dependent Beta Thalassemiabeta thalassemia that results in severe anemia and requires regular blood transfusions for patient survival.
Transfusion Dependent Thalassemia|Transfusion-dependent Thalassemiathalassemia that results in severe anemia and requires regular blood transfusions for patient survival.
X-Linked Thrombocytopenia with Beta-Thalassemia|XLTTan x-linked recessive condition caused by mutation(s) in the gata1 gene encoding erythroid transcription factor. it is characterized by thrombocytopenia, hemolytic anemia, and impairment of hemoglobin chain synthesis.
Tabular List of Diseases and Injuries
The following annotation back-references are applicable to this diagnosis code. The Tabular List of Diseases and Injuries is a list of ICD-10-CM codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more.
Inclusion TermsInclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
- Homozygous delta-beta thalassemia
Type 1 ExcludesType 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
Index to Diseases and Injuries References
The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).
Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.
Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.
Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.
NIH: National Heart, Lung, and Blood Institute
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