2024 ICD-10-CM Diagnosis Code D56.0
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Acquired hemoglobin H disease
- Alpha plus thalassemia
- Alpha plus thalassemia deletion type
- Alpha plus thalassemia non deletion type
- Alpha thalassemia
- Alpha thalassemia X-linked intellectual disability syndrome
- Alpha zero thalassemia
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
- Deletion of part of short arm of chromosome 16
- Fetal anemia
- Fetus with hereditary disease
- Hemoglobin Bart's hydrops syndrome
- Hemoglobin H constant spring thalassemia
- Hemoglobin H disease
- Hemoglobin Paksé disease
- Hemoglobin Seal Rock disease
- Homozygous alpha thalassemia
- Hydrops fetalis
- Sickle cell anemia with coexistent alpha-thalassemia
- Sickle cell-hemoglobin SS disease
- 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.
Hydrops Fetalisabnormal accumulation of serous fluid in two or more fetal compartments, such as skin; pleura; pericardium; placenta; peritoneum; amniotic fluid. general fetal edema may be of non-immunologic origin, or of immunologic origin as in the case of erythroblastosis fetalis.
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.
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.
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.
Hydrops Fetalisa condition characterized by fluid accumulation in two or more anatomic compartments in the fetus.
Immune Hydrops Fetalisfluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens.
Non-Immune Hydrops Fetalisfluid accumulation in multiple fetal anatomic cavities that is of non-immune origin.
Hemoglobin H Diseasea form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. clinically it is characterized by chronic hemolytic anemia.
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.
- Alpha thalassemia major
- Hemoglobin H Constant Spring
- Hemoglobin H disease
- Hydrops fetalis due to alpha thalassemia
- Severe alpha thalassemia
- Triple gene defect alpha thalassemia
Use Additional CodeUse Additional Code
The “use additional code” indicates that a secondary code could be used to further specify the patient’s condition. This note is not mandatory and is only used if enough information is available to assign an additional code.
- code, if applicable, for hydrops fetalis due to alpha thalassemia P56.99
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).
- - Disease, diseased - See Also: Syndrome;
- - Hydrops - R60.9
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
[Learn More in MedlinePlus]
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.
Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease.
Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, most babies with this condition are stillborn or die soon after birth because of these serious health problems. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding.
HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.
[Learn More in MedlinePlus]
Alpha thalassemia X-linked intellectual disability syndrome
Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.
Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.
Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.
Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).
[Learn More in MedlinePlus]
- FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
- FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
- FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
- FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
- FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
- FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
- FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
- FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
- FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.
 Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:
- The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
- The condition places limitations on self-care, independent living, and social interactions.