what is the icd 10 code for chromosome 13q deletions syndrome

by Dr. Emmitt Langworth III Published 2 years ago Updated 1 year ago 6 min read

Other deletions of part of a chromosome

The 2022 edition of ICD-10-CM Q93. 5 became effective on October 1, 2021.

Full Answer

What is chromosome 13q deletion syndrome?

Chromosome 13q Deletion Syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13 The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved

What is the ICD 10 code for chromosome deletion?

Q93.5 is a billable ICD code used to specify a diagnosis of other deletions of part of a chromosome. A 'billable code' is detailed enough to be used to specify a medical diagnosis. Documentation insufficient to determine if the condition was present at the time of inpatient admission.

What are the signs and symptoms of chromosome 13 deletion?

What chromosome deletion is associated with intellectual disability?

Deletions from 13q33 to the end of the chromosome are associated with intellectual disability. Intellectual disabilities range from very mild to very severe, and can co-occur with behavioral disorders and/or autism spectrum disorders.

What is the ICD-10 code for R13 10?

Code R13. 10 is the diagnosis code used for Dysphagia, Unspecified. It is a disorder characterized by difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson's disease, and multiple sclerosis.

What is the ICD-10 code for gene mutation?

Chromosomal abnormality, unspecified Q99. 9 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 Q99. 9 became effective on October 1, 2021.

What is micro deletion?

Microdeletions, or submicroscopic deletions, are chromosomal deletions that are too small to be detected by light microscopy using conventional cytogenetic methods. Specialized testing is needed to identify these deletions. Microdeletions are typically 1 to 3 Mb long and involve several contiguous genes.

What does the deletion of an entire Autosome cause?

Abstract. Most cytologically visible autosomal deletions cause multiple malformations and mental retardation. A small proportion of deletions produce recognizable phenotypes, these are called segmental aneusomy or contiguous gene syndromes.

What is Z15 89 code?

Genetic susceptibility to other diseaseICD-10 code Z15. 89 for Genetic susceptibility to other disease is a medical classification as listed by WHO under the range - Factors influencing health status and contact with health services .

Can F07 81 be used as a primary diagnosis?

Our physicians have used IDC-10 code F07. 81 as the primary diagnosis for patients presenting with post concussion syndrome.

Is chromosome deletion a disability?

Summary. 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems.

What is chromosome 15q11 2 deletion?

2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11. 2) is missing (deleted). The features of people with a 15q11. 2 microdeletion vary widely.

How is chromosomal microdeletion syndrome diagnosed?

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb). Detection is done by fluorescence in situ hybridization (FISH).

What genetic disorder is caused by chromosome deletion?

4p- syndrome (4p minus syndrome or Wolf-Hirschhorn syndrome)

What disorder is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What disorder is caused by the deletion of part of a chromosome?

Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5.

What is chromosome 13q deletion?

Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing ( deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [1] [2] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.

What are the characteristics of a person with chromosome 13q deletion?

Features that often occur in people with chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features . [1] [2] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited.

What are the common defects of 13q deletion syndrome?

Common defects include atrial septal defect, tetralogy of Fallot, ventricular septal defect, patent ductus arteriosus, pulmonary stenosis, and coarctation of the aorta. Defects of the endocrine system, digestive system, and genitourinary system are also common.

What is the deletion of chromosome 13?

13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as:

What is the 13Q32 band?

Other skeletal malformations are found with 13q deletion syndrome, including syndactyly, clubfoot, clinodactyly, and malformations of the vertebrae and/or thumbs. Deletions that include the 13q32 band, which contains the brain development gene ZIC2, are associated with holoprosencephaly; they are also associated with hand and foot malformations.

How are 13q and 13q separated?

They are separated from each other only by a primary constriction, the centromere, the point at which the chromosome is attached to the spindle during cell division. When portions of the long arm of chromosome 13 are altered during gametogenesis, 13q deletion syndrome results.

What is the deletion of 13q?

13q deletion syndrome. 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability ...

How to diagnose 13q deletion?

Diagnosis. 13q deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. Family and medical history is important when diagnosing a child with 13q deletion syndrome. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited.

What are the brain abnormalities associated with 13q deletion?

They can include epilepsy, craniosynostosis (premature closing of the skull bones), spastic diplegia, cerebral hypotrophy, underdevelopment or agenesis of the corpus callosum, cerebellar hypoplasia, deafness, and, rarely, hydrocephalus, Dandy–Walker syndrome, and spina bifida.

Who gets Chromosome 13q Deletion Syndrome? (Age and Sex Distribution)

Chromosome 13q Deletion Syndrome is a rare congenital disorder which may or may not be inherited

What are the Risk Factors for Chromosome 13q Deletion Syndrome? (Predisposing Factors)

A positive family history may be an important risk factor, since Chromosome 13q Deletion Syndrome can be inherited

What are the Causes of Chromosome 13q Deletion Syndrome? (Etiology)

Chromosome 13q Deletion Syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13

What are the Signs and Symptoms of Chromosome 13q Deletion Syndrome?

The signs and symptoms of Chromosome 13q Deletion Syndrome may vary in severity among affected individuals, and include:

How is Chromosome 13q Deletion Syndrome Diagnosed?

Chromosome 13q Deletion Syndrome is diagnosed on the basis of the following information:

How is Chromosome 13q Deletion Syndrome Treated?

There is no cure for Chromosome 13q Deletion Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Chromosome 13q Deletion Syndrome be Prevented?

Chromosome 13q Deletion Syndrome may not be preventable, since it is a genetic disorder.

The ICD code Q935 is used to code 9q34 deletion syndrome

9q34 deletion syndrome, also known as kleefstra syndrome, is a rare genetic disorder. terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.

Coding Notes for Q93.5 Info for medical coders on how to properly use this ICD-10 code

Inclusion Terms are a list of concepts for which a specific code is used. The list of Inclusion Terms is useful for determining the correct code in some cases, but the list is not necessarily exhaustive.

ICD-10-CM Alphabetical Index References for 'Q93.5 - Other deletions of part of a chromosome'

The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code Q93.5. Click on any term below to browse the alphabetical index.

Equivalent ICD-9 Code GENERAL EQUIVALENCE MAPPINGS (GEM)

This is the official approximate match mapping between ICD9 and ICD10, as provided by the General Equivalency mapping crosswalk. This means that while there is no exact mapping between this ICD10 code Q93.5 and a single ICD9 code, 758.39 is an approximate match for comparison and conversion purposes.

Overview

Signs and symptoms

Variations of the signs and symptoms occur depending upon the area of chromosome 13 that is deleted. Deletions from the centromere to 13q32 or any deletions including the 13q32 band are associated with slow growth, intellectual disability, and congenital malformations. Deletions from 13q33 to the end of the chromosome are associated with intellectual disability. Intellectual disabilities range from very mild to very severe, and can co-occur with behavioral disorders and/or autism …

Causes

Although one can inherit 13q deletion syndrome, the most common way to obtain the disease is through genetic mutations. All human chromosomes have 2 arms, the p (short) arm and the q (long) arm. They are separated from each other only by a primary constriction, the centromere, the point at which the chromosome is attached to the spindle during cell division. When portions of the long arm of chromosome 13 are altered during gametogenesis, 13q deletion syndrome result…

Mechanism

This disorder is caused by the deletion of the long arm of chromosome 13, which can either be deleted linearly or as a ring chromosome. It is typically not hereditary— the loss of a portion of the chromosome typically occurs during gametogenesis, making it a de novo mutation. When it is hereditary, it is usually caused by a parent having mosaicism or a balanced translocation. The severity of the disorder is correlated with the size of the deletion, with larger deletions causing …

Diagnosis

13q deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. Family and medical history is important when diagnosing a child with 13q deletion syndrome. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. Increased nuchal translucency in a first-trimester ultrasound may indicate the presence of 13q deletion. It is important to follow through with gene…

Treatment

Although there is no cure for 13q deletion syndrome, symptoms can be managed, usually with the involvement of a neurologist, rehabilitation physician, occupational therapist, physiotherapist, psychotherapist, nutritionist, special education professional, and/or speech therapist. No treatment for 13q deletion syndrome will ever be identical due to the variations in the disease which is why the use of personalized teams with members from different medical fields is vital t…

Prognosis

Affected individuals may have a somewhat shortened lifespan without treatment. The maximum lifespan without treatment is 67 years. When a 13q deletion is detected, such as in a bone marrow biopsy for Multiple Myeloma, chemo treatments in recent years have the ability to extend life expectancy without limitations depending on response to treatments. It is not uncommon for adults with 13q deletion syndrome to need support services to maintain their activities of daily li…

Epidemiology

It is incredibly rare, with fewer than 190 cases described. Although rare, deletions involving chromosome 13q are among the most commonly observed monosomies Chromosome 13, Partial Monosomy 13q appears to affect females slightly more frequently than males. Since the disorder was originally reported in 1963, more than 125 cases have been recorded in the medical literature. The age of onset can vary from patient to patient because of the differences in deletions. For ex…