What is Lowe syndrome?
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision.
What type of genetic mutation is Lowe syndrome?
Lowe syndrome is an X-linked genetic disorder caused by a mutation in the OCRL gene that results in reduced activity of the phosphatidylinositol polyphosphate 5-phosphatase OCRL enzyme.
What is the ICD 10 code for Waardenburg syndrome?
Causes of Hearing Loss, with ICD-10 codesICD-10CauseQ87.0Stickler syndromeQ75.4Treacher Collins syndromeM85.2Van Buchem syndromeE70.8Waardenburg syndrome, types 1-4129 more rows
WHO discovered Lowe syndrome?
It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.
What is the ICD 10 code for bilateral hearing?
H91.93Unspecified hearing loss, bilateral H91. 93 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
What is the ICD 10 code for retinitis pigmentosa?
52 Retinitis Pigmentosa. Retinitis pigmentosa is a group of genetic diseases that causes retinal degeneration and severe visual impairment.Jul 31, 2016
What is the ICD 10 code for hard of hearing?
H91.90ICD-10-CM Code for Unspecified hearing loss, unspecified ear H91. 90.
What is the approximate match between ICd9 and ICd10?
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 E72.03 and a single ICD9 code, 270.8 is an approximate match for comparison and conversion purposes.
What is an additional code note?
Use Additional Code note means a second code must be used in conjunction with this code. Codes with this note are Etiology codes and must be followed by a Manifestation code or codes.
What is the ICd 10 code for Lowe’s syndrome?
E72.03 is a billable diagnosis code used to specify a medical diagnosis of lowe’s syndrome. The code E72.03 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions.#N#The ICD-10-CM code E72.03 might also be used to specify conditions or terms like lowe syndrome.
What does “use additional code” mean?
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.
The ICD code E720 is used to code Oculocerebrorenal syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, intellectual disability, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases.
ICD-10-CM Alphabetical Index References for ‘E72.02 – Hartnup’s disease’
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E72.02. 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 E72.02 and a single ICD9 code, 270.0 is an approximate match for comparison and conversion purposes.
What is the name of the syndrome that results from having an extra copy of chromosome 21?
Down syndrome is set of mental and physical symptoms that result from having an extra copy of chromosome 21. Even though people with down syndrome may have some physical and mental features in common, symptoms of down syndrome can range from mild to severe.
What is the risk of leukemia in Down syndrome?
Patients with down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of alzheimer’s disease by age 40. Also known as trisomy 21 syndrome. A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21.
What is the term for the presence of a third copy of chromosome 21?
A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births.
Can Down syndrome be cured?
They may have hearing problems and problems with the intestines, eyes, thyroid and skeleton.the chance of having a baby with down syndrome increases as a woman gets older. Down syndrome cannot be cured.