| Entry | H00439 Disease |
|---|---|
| Other DBs | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C537330 OMIM: 260400 617941 |
| Reference | PMID:19327581 |
| Authors | Burroughs L, Woolfrey A, Shimamura A |
| Title | Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. |
What is the ICD 10 alphabetic index for Shwachman syndrome?
· In ICD-9-CM, the listing for Shwachman's Syndrome directed to 288.02 but the syndrome is not listed in ICD-10 alphabetic index. Based on this, it seems you would report only the documented manifestations (eg D70.4 and Q45.3). I could not find anything where Coding Clinic has addressed this condition for ICD-10-CM. Hope that helps. Cindy
What is Shwachman–Diamond syndrome (SDS)?
· D61.01 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM D61.01 became effective on October 1, 2021. This is the American ICD-10-CM version of D61.01 - other international versions of ICD-10 D61.01 may differ. Applicable To.
Is Shwachman–Diamond syndrome dominant or recessive?
The ICD - 10 -CM code D70.4 might also be used to specify conditions or terms like cyclical neutropenia, cyclical neutropenia, pancreatic insufficiency, periodontitis co-occurrent with cyclical neutropenia or shwachman syndrome Tabular List of Diseases and Injuries The Tabular List of Diseases and Injuries is a list of ICD - 10 codes, organized
What is Shwachman-Diamond syndrome?
Shwachman syndrome; Shwachman-Bodian-Diamond syndrome; Prevalence: 1-9 / 1 000 000; Inheritance: Autosomal recessive ; Age of onset: Antenatal, Neonatal, Infancy, Childhood; ICD-10: D61.0; OMIM: 260400 617941; UMLS: C0272170; MeSH: -GARD: 4863; MedDRA: 10067940
What is Shwachman-Diamond Syndrome?
In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells . A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia.
How is Shwachman-Diamond Syndrome diagnosed?
Doctors diagnose Shwachman-Diamond syndrome (SDS) with: blood work to evaluate red blood cells, white blood cells and platelets. kidney, liver and pancreatic function tests. pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption.
What is Riley Shwachman syndrome?
Shwachman syndrome is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (pancreatic insufficiency); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells; abnormal bone changes that ...
What causes Shwachman-Diamond Syndrome?
Shwachman-Diamond Syndrome Causes Changes (mutations) in a person's genes cause Shwachman-Diamond syndrome. In most cases, when parents are carriers of the changed gene, they don't show signs of the disease. SDS is usually caused by an autosomal recessive genetic change.
Can adults have Shwachman-Diamond Syndrome?
Classified as a form of bone marrow failure, Shwachman-Diamond syndrome (SDS) is a rare, inherited condition that is usually diagnosed in children but is increasingly diagnosed in adults. The frequency of SDS is unclear, but is estimated to affect about one in 75,000 people.
How do you pronounce Shwachman?
0:000:11Pronounce Medical Words ― Shwachman―Diamond SyndromeYouTubeStart of suggested clipEnd of suggested clipSchwa c'mon diamond syndrome schwa c'mon diamond syndrome schwa c'mon diamond syndrome.MoreSchwa c'mon diamond syndrome schwa c'mon diamond syndrome schwa c'mon diamond syndrome.
How do you treat SDS?
Treatment for Shwachman-Diamond syndrome (SDS) is based on managing the symptoms. Treatment options include replacement of missing pancreatic enzymes to aid digestion and a special diet that includes fat-soluble vitamins. Additional treatments include blood transfusions and antibiotics .
What is Pearson's disease?
Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder.
Can severe congenital neutropenia be cured?
Bone marrow transplantation has been used to treat patients with SCN and should be considered for any patient with severe congenital neutropenia with a matched sibling or 10/10-matched unrelated donor. Bone marrow transplants have the potential to cure SCN but bring additional risks into the management of the disorder.
What is the inheritance pattern of Bloom syndrome?
Bloom syndrome is inherited in an autosomal recessive pattern. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. The causative gene has been mapped to chromosomal location 15q26.
What is bone marrow disease?
A very rare disorder in which the bone marrow doesn't make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer).
What is the condition of pure red cell aplasia?
Patients with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell's ribosomes. An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.
What does "type 1 excludes note" mean?
A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition. acquired red cell aplasia (.
What is the gene for shwachman diamond syndrome?
Rarediseases.info.nih.gov#N#Shwachman-Diamond syndrome (SDS) associated with a SBDS, DNAJC21, or EFL1 gene is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
What is the ICd 10 code for red blood cell aplasia?
Icd.codes#N#ICD-10-CM Alphabetical Index References for 'D61.01 - Constitutional (pure) red blood cell aplasia' The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code D61.01. Click on any term below to browse the alphabetical index.
What is the SDS?
Orpha.net#N#Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
What is Shwachman Diamond Syndrome?
Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999 ).
What is the syndrome of pancreatic insufficiency?
Shwachman et al. (1964) described a syndrome of pancreatic insufficiency (suggesting cystic fibrosis of the pancreas but with normal sweat electrolytes and no respiratory difficulties) and pancytopenia. One sibship contained 2 affected brothers and an affected female. From the early paper of Bartholomew et al. (1959) it appears that so-called primary atrophy of the pancreas may be, in some instances, the same disorder and that manifestations may develop first after the fifth decade of life. The same syndrome was described by Nezelof and Watchi (1961) and later by other authors such as Pringle et al. (1968). Goldstein (1968) and others before him called this condition congenital lipomatosis of the pancreas. He described one affected fraternal twin girl. Affected sibs were referred to by Burke et al. (1967). Pringle et al. (1968) observed associated skeletal changes of the metaphyseal dysostosis type. These are of interest because of the digestive abnormalities (not yet well characterized) and hematologic changes in cartilage-hair hypoplasia ( 250250 ), a form of metaphyseal chondrodysplasia. The exocrine pancreas is replaced by fat, whereas the islets of Langerhans are normal.
What are the symptoms of Shwachman Diamond Syndrome?
Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with SDS may have feeding difficulties, slow growth, and frequent infections. People with SDS are at increased risk for blood cancers. Shwachman-Diamond syndrome can be caused by the SBDS, DNAJC21, EFL1, or SRP54 gene not working correctly. It can be inherited in either an autosomal recessive or autosomal dominant pattern. SDS is diagnosed is based on symptoms, blood tests, and genetic testing. Treatment may include enzyme and vitamin supplements, blood transfusion , granulocyte-colony stimulating factor (G-CSF), and hematopoietic stem cell transplantation. [1] [2] [3]
Is Shwachman Diamond syndrome autosomal recessive?
Shwachman-Diamond syndrome (SDS) associated with a SBDS, DNAJC21, or EFL1 gene is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
What is a GTR?
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Why is research important?
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Overview
Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.
Signs and symptoms
The syndrome shows a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, hematologic abnormalities and growth retardation. Only the first two of these are included in the clinical diagnostic criteria.
• Hematologic abnormalities: neutropenia may be intermittent or persistent and is the most common hematological finding. Low neutrophilcounts leave patients at risk of developing sever…
Genetics
Shwachman–Diamond syndrome is characterized by an autosomal recessive mode of inheritance. The gene that is mutated in this syndrome, SBDS, lies on the long arm of chromosome 7 at cytogenetic position 7q11. It is composed of five exons and has an associated mRNA transcript that is 1.6 kilobasepairs in length. The SBDS gene resides in a block of genomic sequence that is locally duplicated on the chromosome. The second copy contains a non-functional version of th…
Mechanisms
The SBDS gene is expressed in all tissues and encodes a protein of 250 amino acid residues. A great deal of indirect evidence suggested that the SBDS protein may be involved in an aspect of cellular RNA metabolism or ribosome assembly or function. The wide occurrence of the gene in all archaea and eukaryotessupported a role for this protein in a very fundamental and evolutionarily conserved aspect of cellular biology. The homologous genes in archaea also tend to be present …
Diagnosis
Initially, the clinical presentation of SDS may appear similar to cystic fibrosis. However, CF can be excluded with a normal chloride in sweat test but faecal elastase as a marker of pancreatic function will be reduced. The variation, intermittent nature, and potential for long-term improvement of some clinical features make this syndrome difficult to diagnose. SDS may present with either malabsorption, or hematological problems. Rarely, SDS may present with skel…
Management
Pancreatic exocrine insufficiency may be treated through pancreatic enzyme supplementation, while severe skeletal abnormalities may require surgical intervention. Neutropenia may be treated with granulocyte-colony stimulating factor (GCSF) to boost peripheral neutrophil counts. However, there is ongoing and unresolved concern that this drug could contribute to the development of leukemia. Signs of progressive marrow failure may warrant bone marrow transplantation(BMT). …
Research
A major goal of curative therapy for SDS is to reduce the risk of bone marrow failure and halt the progression of malignant transformation toward myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), the most detrimental complications of SDS. Currently, there is no such therapy. However, several emerging therapeutic strategies, including gene therapy and antisense oligonucleotides(ASOs), could potentially slow or prevent malignant transformation, at least in t…
Epidemiology
It is thought to have an estimated incidence of 1 in 75,000 people.
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