D69.1 - Qualitative platelet defects

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Abnormal platelet destruction
• Abnormal platelet production
• Acquired PF-3 disease
• Acquired platelet disorder
• Acquired platelet function disorder
• Acquired platelet function disorder
• Acquired storage pool deficiency
• Asplenia
• Autoimmune state
• Autoplatelet sensitivity
• Autosensitivity
• Bernard Soulier syndrome
• Bleeding diathesis due to collagen receptor defect
• Congenital dyserythropoietic anemia
• Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type
• Congenital miosis
• Cyclooxygenase deficiency
• Decreased platelet destruction
• Decreased platelet life span
• Dense body defect
• Exhausted platelets
• Familial alpha>2< adrenergic receptor defect in platelets
• Familial platelet syndrome with predisposition to acute myelogenous leukemia
• Giant platelet syndrome
• Giant platelet syndrome
• Glanzmann's thrombasthenia
• Glycoprotein Ia defect
• Glycoprotein Ib defect
• Glycoprotein VI deficiency
• Gray platelet syndrome
• Hereditary platelet function disorder
• Increased platelet destruction
• Ineffective thrombopoiesis
• Inherited platelet disorder
• Isolated collagen aggregation defect
• Medich giant platelet syndrome
• Mediterranean macrothrombocytopenia
• Megakaryocyte finding
• Megakaryocytic thrombocytopenia
• Mixed alpha granule and dense body deficiency
• Montreal platelet syndrome
• Platelet clumps
• Platelet dense granule deficiency
• Platelet disorder
• Platelet dysfunction associated with uremia
• Platelet dysfunction due to aspirin
• Platelet dysfunction due to drugs
• Platelet membrane defect
• Platelet morphology - finding
• Platelet morphology - finding
• Platelet procoagulant activity deficiency
• Platelet production finding
• Platelet satellite
• Platelet secretory disorder
• Platelet sequestration
• Platelet storage pool defect
• Qualitative platelet disorder
• Scott syndrome
• Sensitized cell
• Sensitized platelet
• Thrombocytopathy, asplenia and miosis
• Thromboxane generation defect
• Thromboxane synthetase deficiency
• White platelet syndrome
• X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

Clinical Information

• Gray Platelet Syndrome-. a rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. it is associated with thrombocytopenia, enlarged platelets, and prolonged bleeding time.
• Thrombocytopenia-. a subnormal level of blood platelets.
• CDAN1 Gene|CDAN1|CDAN1|Congenital Dyserythropoietic Anemia, Type I Gene-. this gene may be involved in nuclear membrane maintenance.
• CDAN1 wt Allele|CDA-I|CDA1|CDAI|Codanin Gene|Congenital Dyserythropoietic Anemia, Type I wt Allele|DLT|Discs Lost Homolog Gene|Discs Lost, Drosophila, Homolog of Gene|PRO1295|UNQ664/PRO1295-. human cdan1 wild-type allele is located in the vicinity of 15q15.2 and is approximately 14 kb in length. this allele, which encodes codanin-1 protein, may play a role in the maintenance of the nuclear envelope. mutation of the gene is associated with congenital dyserythropoietic anemia type i.
• Congenital Dyserythropoietic Anemia-. a rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. the most common mutations are in the cdan1 and sec23b genes.
• Congenital Dyserythropoietic Anemia Type II|CDA II|CDAN2|HEMPAS|Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test|SEC23B-CDG-. an autosomal recessive subtype of congenital dyserythropoietic anemia caused by mutation(s) in the sec23b gene, encoding protein transport protein sec23b.
• Congenital Dyserythropoietic Anemia Type IV|CDAN4-. an autosomal dominant sub-type of congenital dyserythropoietic anemia caused by mutation(s) in the klf1 gene, encoding krueppel-like factor 1.
• SEC23B wt Allele|CDA-II|CDAII|CDAN2|Congenital Dyserythropoietic Anemia, Type II Gene|HEMPAS|RP11-379J5.1|Sec23 Homolog B (S. cerevisiae) wt Allele-. human sec23b wild-type allele is located in the vicinity of 20p11.23 and is approximately 54 kb in length. this allele, which encodes protein transport protein sec23b, is involved in the transport of vesicles from the endoplasmic reticulum to the golgi. mutation of the gene is associated with congenital dyserythropoietic anemia type ii.

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Patient Education

Platelet Disorders

Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets:

• If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions.
• If your blood has too many platelets, you may have a higher risk of blood clots.
• When the cause is unknown, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures.
• If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it.
• Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have.

NIH: National Heart, Lung, and Blood Institute

Glanzmann thrombasthenia

Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.

About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).

The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.

Gray platelet syndrome

Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.

A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).

Code History

• 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 (First year ICD-10-CM implemented into the HIPAA code set)