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Vitamin d resistant rickets icd 10 cm codes

Vitamin D als hochdosierte Kapseln 20.000IE, 10.000IE & 5.000IE hier bestelle Vitamin D ist für viele Lebensfunktionen unentbehrlich. Gleich hier bestellen! Ideal zur Nahrungsergänzung - Ihr Körper wird es Ihnen danken 500 results found. Showing 1-25: ICD-10-CM Diagnosis Code E83.32 [convert to ICD-9-CM] Hereditary vitamin D -dependent rickets (type 1) (type 2) Hereditary vitamin d dependent rickets type 2; Vitamin d-dependent rickets, type 2; 25-hydroxyvitamin D 1-alpha-hydroxylase deficiency; Pseudovitamin D deficiency; Vitamin D receptor defect. ICD-10-CM.

E55.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2021 edition of ICD-10-CM E55.0 became effective on October 1, 2020. This is the American ICD-10-CM version of E55.0 - other international versions of ICD-10 E55.0 may differ vitamin D-resistant rickets E83.31 Index to Diseases and Injuries The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code (s). The following references for the code E55.0 are found in the index E67.3 Hypervitaminosis D E83.31 Familial hypophosphatemia E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2) E83.51 -€E83.52 Hypocalcemia and hypercalcemia E84.0 -€E84.9 Cystic fibrosis G40.001 -€G40.919 Epilepsy and recurrent seizures [medications known to reduce vitamin D] I00 -€I01.9 Rheumatic fever without/with heart. ICD-10-CM codes indicated for 25-Hydroxy Vitamin D [25(OH)D] measurement The Endocrine Society has released clinical practice guidelines1 for evaluating vitamin D status in people at high risk for deficiency. Hyperparathyroidism E210, E211, E212, E213, E214, E21

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  1. D The Endocrine Society has released guidelines1 for certain at-risk populations for vita
  2. Codes . ICD-10-CM Codes; ICD-10-PCS Codes; Legacy ICD-9-CM Codes; Indexes . ICD-10-CM Index; ICD-10-CM External Causes Index; Table of Drugs; Table of Neoplasms; Conversion; DRG; Rules . ICD-10-CM; Newborn Codes; Pediatric Codes; Adult Codes; Maternity Codes; Female Only Diagnosis Codes; Male Only Diagnosis Codes; Manifestation Codes; POA.
  3. Rickets. The ICD-10-CM Alphabetical Index is designed to allow medical coders to look up various medical terms and connect them with the appropriate ICD codes. There are 8 terms under the parent term 'Rickets' in the ICD-10-CM Alphabetical Index
  4. D-dependent rickets (type 1) (type 2) N25.0 Renal osteodystrophy
  5. D-resistant rickets Using the ICD-10-CM code book, assign the proper diagnosis code: Type 1 diabetes E10.
  6. -D-resistant E83.31 Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes

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  1. d dependent rickets type 2; Vita
  2. D-resistant osteomalacia - instead, use code E83.3 Vita
  3. D-dependent rickets (type 1) (type 2). A 'billable code' is detailed enough to be used to specify a medical diagnosis. The ICD code E833 is used to code X-linked hypophosphatemi
  4. D-dependent rickets, type 2 Convert E83.32 to ICD-9 Code The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E83.32 its ICD-9 equivalent

ICD-10-CM Code for Rickets, active E55.0 ICD-10 code E55.0 for Rickets, active is a medical classification as listed by WHO under the range - Endocrine, nutritional and metabolic diseases. Subscribe to Codify and get the code details in a flash. Request a Demo 14 Day Free Trial Buy No vitamin D-resistant rickets (E83.31) The use of ICD-10 code E55.0 can also apply to: Rickets (active) (acute) (adolescent) (chest wall) (congenital) (current) (infantile) (intestinal ICD-10-CM Code. E55.0. Billable codes are sufficient justification for admission to an acute care hospital when used a principal diagnosis. E55.0 is a billable ICD code used to specify a diagnosis of rickets, active. A 'billable code' is detailed enough to be used to specify a medical diagnosis ICD-10-CM Alphabetical Index References for 'E83.31 - Familial hypophosphatemia' The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E83.31. Click on any term below to browse the alphabetical index. Rickets (active) (acute) (adolescent) (chest wall) (congenital) (current) (infantile) (intestinal)

ICD-10-CM Code for Adult osteomalacia due to malabsorption M83.2 ICD-10 code M83.2 for Adult osteomalacia due to malabsorption is a medical classification as listed by WHO under the range - Osteopathies and chondropathies . vitamin D-resistant rickets (active) Additional/Related Information. Tabs ICD-10-CM Code for Hereditary vitamin D-dependent rickets (type 1) (type 2) E83.32 ICD-10 code E83.32 for Hereditary vitamin D-dependent rickets (type 1) (type 2) is a medical classification as listed by WHO under the range - Endocrine, nutritional and metabolic diseases

Related 2021 ICD-10-CM Codes to E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2) ICD-10-CM Index; Chapter: E00-E90; Section: E70-E8 vitamin D-deficiency rickets E55.0; Index to Diseases and Injuries. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E83.31 are found in the index: - Disorder (of) - See Also: Disease; - metabolism NOS - E88.9 - phosphorus. ICD-10-CM Diagnosis Codes E83.32 - Hereditary vitamin D-dependent rickets (type 1) (type 2) The above description is abbreviated. This code description may also have Includes, Excludes, Notes, Guidelines, Examples and other information Hereditary vitamin D-dependent rickets (type 1) (type 2) Billable Code E83.32 is a valid billable ICD-10 diagnosis code for Hereditary vitamin D-dependent rickets (type 1) (type 2). It is found in the 2021 version of the ICD-10 Clinical Modification (CM) and can be used in all HIPAA-covered transactions from Oct 01, 2020 - Sep 30, 2021 The ICD-10-CM code E64.3 might also be used to specify conditions or terms like late effect of rickets, late effects of rickets, sequelae of malnutrition and other nutritional deficiencies or sequelae of nutritional disorders. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals

This is intended to aid in understanding coverage limitations of vitamin D testing according to the Endocrine Society. This list was compiled from the ICD-10-CM 2020 AMA manual, but is not a complete list. An ICD-10-CM book should be used as a complete reference. Diagnoses must always be documented in the patient's medical record ICD-10-CM Code for Adult osteomalacia, unspecified M83.9 ICD-10 code M83.9 for Adult osteomalacia, unspecified is a medical classification as listed by WHO under the range - Osteopathies and chondropathies . vitamin D-resistant rickets (active) Additional/Related Information. Tabs Wellness-Produkte jetzt günstig bestellen. Kostenlose Lieferung möglic ICD-10-CM Common Codes for Conditions Associated with Low Vitamin D Code Diagnoses Bone Disease E55.0 Rickets, Active E64.3 Rickets, Late E˜ect M81.0 Senile Osteoporosis M81.8 Idiopathic Osteoporosis M81.8 Disuse Osteoporosis M81.8 Osteoporosis Nec M83.9 Osteomalacia, adult Z13.820 Screen - Osteoporosis Z82.62 Family History Osteoporosi

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- Rickets - Chronic renal An ICD-10-CM book should be used as a complete reference. The ultimate responsibility for correct coding belongs to the ordering physician. RELEVANT ICD-10 CODES FOR VITAMIN D TESTING. Created Date: 12/8/2017 8:56:20 AM. All CPT/HCPCS, ICD-10 codes, and Billing and Coding Guidelines have been removed from this LCD and placed in Billing and Coding: Vitamin D Assay Testing linked to this LCD. Consistent with Change Request 10901 language from IOMs and/or regulations has been removed and the applicable manual/regulation has been referenced During the process of moving the ICD-10-CM diagnosis codes to the billing and coding article, the ICD-10-CM diagnosis code ranges were broken out and listed individually. The effective date of this revision is for claims processed on or after January 8, 2019, for dates of service on or after October 3, 2018

2021 ICD-10-CM Diagnosis Code E55

49907 VITAMIN D (1,25 DIHYDROXY) (Proc Code: 82652) 56799 VITAMIN D, 25-HYDROXY (D2 & D3) (Proc Code: 82306) 65560 VITAMIN D, 25-HYDROXY, TOTAL (Proc Code: 82306) ICD-10 CODE DESCRIPTION E55.0 Rickets, active E55.9 Vitamin D deficiency, unspecified E83.50* Unspecified disorder of calcium metabolism *Use only for unexplained hypercalciuri DESCRIPTION. ICD-10 CODE. DESCRIPTION. 2018. MEDICARE LOCAL COVERAGE DETERMINATION (LCD) - L36692. CPT CODES: 82306, 82652. Vitamin D Assay Testing. For services performed on or after 2-3-2017. DLS TEST CODE AND NAME the body to use Vitamin D and clinical concerns for Vitamin D intoxication and it provides specific covered ICD-10-CM Diagnosis Codes. Vitamin D tests ordered without a covered ICD-10-CM diagnosis code will not satisfy Cigna's medical necessity determination and will not be covered. For Vitamin D testing without a covered Diagnosis Code, Clinica

Practice coding assignments and quiz Learn with flashcards, games, and more — for free. Home Browse. Create. vitamin D-resistant rickets. E83.31, M90.80. type 1 diabetes. E10.9. type 2 diabetes with hyperosmolarity. ICD 10 CM and ICD 10 PCS Chapter 15 Test Yourself. 25 terms. isa924. OST-248 Diagnostic Coding - Chapter 5 - 7. Section II of the ICD-10-CM Official Guidelines for Coding and Reporting includes instructions on outpatient coding and reporting. Vitamin D-resistant rickets. E83.31 M90.80. Febrile complex convulsions with status epilepticus. G40.901. Ascites in alcoholic hepatitis, alcohol use unspecified CPT CODES: 82306, 82652. Vitamin D Assay Testing. For services performed on or after 2-3-2017. DLS TEST CODE AND NAME. Click to see full answer. Similarly, what ICD 10 code covers vitamin D? E55. 9 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2020 edition of ICD-10-CM E55 •Vitamin D resistant rickets •Tumor-induced osteomalacia •Sarcoidosis. www.hca.wa.gov CPT: Code Description Washington Apple Health (Medicaid) Limited Coverage Policy The ICD-10 codes listed below are the top diagnosis codes currently utilized by ordering physicians for the limited coverage test highlighted above. These codes are also.

2021 ICD-10-CM Code E55

ICD-9-CM 275.3 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 275.3 should only be used for claims with a date of service on or before September 30, 2015. For claims with a date of service on or after October 1, 2015, use an equivalent ICD-10-CM code (or codes) Short description: Rickets, active. ICD-9-CM 268.0 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 268.0 should only be used for claims with a date of service on or before September 30, 2015. For claims with a date of service on or after October 1, 2015, use an equivalent ICD-10-CM code (or codes).. Vitamin D deficiency, unspecified E55. 9 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2020 edition of ICD - 10 -CM E55. 9 became effective on October 1, 2019

ICD-10-BE. Endocrine, nutritional and metabolic diseases ( E00-E89) Note: All neoplasms, whether functionally active or not, are classified in Chapter 2. Appropriate codes in this chapter (i.e. E05.8, E07.0, E16 - E31, E34 .-) may be used as additional codes to indicate either functional activity by neoplasms and ectopic endocrine tissue or.

2021 ICD-10-CM Index > 'Rickets

ICD-10-CM Code for Adult osteomalacia M83 ICD-10 code M83 for Adult osteomalacia is a medical classification as listed by WHO under the range - Osteopathies and chondropathies . Subscribe to Codify and get the code details in a flash E55.0 - Rickets, active is a sample topic from the ICD-10-CM.. To view other topics, please sign in or purchase a subscription.. ICD-10-CM 2021 Coding Guide™ from Unbound Medicine. Search online 72,000+ ICD-10 codes by number, disease, injury, drug, or keyword Free, official information about 2010 (and also 2011-2015) ICD-9-CM diagnosis code 268, including coding notes, detailed descriptions, index cross-references and ICD-10-CM conversion. Home > 2010 ICD-9-CM Diagnosis Codes > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Nutritional Deficiencies 260-269 > Vitamin. ICD-10-CM to HCC - Map-A-Code 268 Vitamin D deficiency. 268.1 Rickets, late effect. ICD-9-CM Vol. 1 Diagnostic Codes. 268.1 - Rickets, late effect. The above description is abbreviated. This code description may also have.

How many times are you able to report each specific ICD-10-CM code per encounter? Once. Laterality refers to what type of organs? Paired. Multiple coding. ICD-10 code for: Vitamin D-resistant rickets. E83.31, M90.80. ICD-10 code for: Febrile complex convulsions with status epilepticus Short description: DIS PHOSPHORUS METABOL. ICD-9-CM 275.3 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 275.3 should only be used for claims with a date of service on or before September 30, 2015. For claims with a date of service on or after October 1, 2015, use an equivalent ICD-10-CM code (or codes) 2009 ICD-9-CM. Search. for vitamin D-resistant: osteomalacia (275.3) rickets (275.3) eicd10: 268.0 Rickets, active. Excludes: celiac rickets (579.0) renal rickets (588.0) eicd10: 268.1 Rickets, late effect. Any condition specified as due to rickets and stated to be a late effect or sequela of rickets. Code first the nature of late effec

E55 - Vitamin D Deficiency [Internet]. In: ICD-10-CM.Centers for Medicare and Medicaid Services and the National Center for Health Statistics; 2018. [cited 2021 July 13] Vitamin D-resistant osteomalacia Vitamin D-resistant rickets Excludes1: vitamin D-deficiency rickets (E55.0) E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2) 25-hydroxyvitamin D 1-alpha-hydroxylase deficiency Pseudovitamin D deficiency Vitamin D receptor defect E83.39 Other disorders of phosphorus metabolism Acid phosphatase.

Question: Instructions: Using an ICD-10-CM code book, assign the proper diagnosis code to the following diagnostic statements. Please be aware that when an answer consists of more than one code, there will be an answer blank for each code. hyperthyroidism fructose intolerance hyperlipidemia NOS morbid obesity Wilson's disease with Kayser. Avitaminosis (multiple) --see also Deficiency, vitamin E56.9 D E55.9 with rickets E55.0 Calciferol deficiency (vitamin D) E55.9 with rickets E55.0 Coxa valga (acquired) --see also Deformity, limb, specified type NEC, thigh sequelae of rickets (late effect) E64.3 vara (acquired) --see also Deformity, limb, specified type NEC, thigh sequelae of rickets (late effect) E64.3 Cubitus valgus.

Rickets ICD-10-CM Alphabetical Index - icd

Vitamin D Deficiency with Rickets Symptom Checker: Possible causes include Vitamin D Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search ICD-10 Codes that Support Medical Necessity It is the responsibility of the provider to code to the highest level specified in the ICD-10-CM. The correct use of an ICD-10-CM code listed below does not assure coverage of a service. The service must be reasonable and E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2) E83.39. Unit Code: 36138 CPT Code: 82652 Vitamin D; 1, 25 dihydroxy A15.0-A15.9 Respiratory tuberculosis C81.00-C81.99 Hodgkin lymphom

ICD-10-CM (2010)/CHAPTER 4. From Wikisource Code first (T36-T65) to identify drug or substance vitamin D-resistant rickets (E83.31) E55.9 Vitamin D deficiency, unspecified Avitaminosis D E56 Other vitamin deficiencies Excludes1: sequelae of other vitamin deficiencies (E64.8 ICD-9 CM to ICD-10 Common Codes for Conditions Associated with Low vitamin D The Endocrine Society has released guidelines1 for certain at-risk populations for vitamin D deficiency: 1Holick MF, et al. Evaluation, Treatment, and Prevention of Vitamin D Deficiency: An Endocrine Society Clinical Practice Guideline E. Vitamin D-resistant rickets; F. Chronic granuloma-forming disorders (e.g., sarcoidosis and some lymphomas). II. ICD-10-CM Diagnosis Codes that Support Coverage Criteria . ICD-10-CM Code Description . A15.0-A15.9 Respiratory tuberculosis C81.00-C81.99 Hodgkin lymphom ICD-9 CM to ICD-10 Common Codes for Conditions Associated with Low vitamin D The Endocrine Society has released guidelines1 for certain at-risk populations for vitamin D deficiency: ICD-9 Code Description ICD10 Code Bone Disease 268.0 Rickets, Active E55.0 268.1 Rickets, Late Effect E64.3 268.2 Osteomalacia, adult M83.9 733.00 Osteoporosis No

ICD10 codes matching 'Rickets' - ICD-Codes

ICD-10-CM CATEGORY CODE RANGE SPECIFIC CONDITION ICD-10 CODE Certain Infectious and A00-B99 Diarrhea, flagellate or protozoal A07.9 Rickets, active E55.0 Vitamin D deficiency, unspecified E55.9 Pure hypercholesterolemia E78.0 Mixed hyperlipidemia E78.2 Other hyperlipidemia E78. 1.1 Vitamin D deficient 1.2 Inherited or acquired disorders of phosphate wasting, or oncogenic osteomalacia Requirements for Coverage ICD-10 codes must be coded to the highest level of specificity. Non-Coverage Daman does not cover management of Rickets & Osteomalacia for the visitors plan

Rickets, active E55.0. Vitamin D deficiency, unspecified. VITAMIN D 25 HYDROXY (CPT 82306) ICD-10 Description ICD-10 ICD-9 Note: Providers should continue to submit ICD-9-CM diagnosis codes without decimals on their claim forms and electronic claims • Vitamin D deficiency is defined as a 25(OH)D below 20 ng/ml (50 nmol/liter), and Vitamin D insufficiency as a 25(OH)D of 21-29 ng/ml (525-725 nmol/liter). • Recommend against using the serum 1,25-dihydroxyvitamin D [1,25(OH)2D] assay for this purpos

35 ICD-10-CM Overview and Coding Guidelines Laterality • For bilateral sites, the final character of the codes in the ICD-10-CM indicates laterality -The right side is usually character 1. -The left side character 2. -In those cases where a bilateral code is provided the bilateral character is usually 3 Group 1 Codes: ICD-10 Codes that Support Medical Necessity Group 1 Paragraph: The correct use of an ICD-10-CM code listed below does not assure coverage of a service. The service must be reasonable and necessary in the specific case and must meet the criteria specified in this determination. Printed on 12/10/2015. Page 3 of

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2021 ICD-10-CM Diagnosis Code E83

Centers for Medicare & Medicaid Services, 7500 Security Boulevard Baltimore, MD 21244 12 Sep 2019 15:57:03 CMS, code-revision=218, description-revision=124 ICD-10-CM General Coding Guidelines. Sequela. score print all. To fully code for muscle spasms as a sequela of rickets I would code M62.838, E64.3 you try it. Value: 1. Paresthesia as a sequela of Vitamin B deficiency . An exception to the above guidelines are those instances where the code for the sequela is followed by a manifestation. 268.1 Rickets, late effect. Any condition specified as due to rickets and stated to be a late effect or sequela of rickets. Code first the nature of late effect. 268.2 Osteomalacia, unspecified. 268.9 Unspecified vitamin D deficiency. Avitaminosis D. 269 Other nutritional deficiencies. 269.0 Deficiency of vitamin K

X-linked hypophosphatemia (XLH), is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein (11 ng/mL) is considered to be consistent with vitamin D deficiency in infants, neonates, and young children and is used as an indicator for establishing the vitamin D reference value (IOM 1997, Specker et al. 1992). Rickets was a common childhood disease in the United States until vitamin D was added to milk Vitamin D resistant rickets 1A (VDDR1A) The vitamin-resistant nature of rickets or osteomalacia is defined by 1) the lack of therapeutic efficacy of vitamin D doses known to be active in rickets, or 2) a relapse, a few days to several weeks, after stopping a vitamin D treatment having improved or cured rickets In contrast, a meta-analysis of 6 trials in 49,282 older adults found that daily vitamin D (10 or 20 mcg [400 IU or 800 IU]/day) and calcium (800 or 1,200 mg/day) supplementation for a mean of 5.9 years reduced the risk of any fracture by 6% and of hip fracture by 16% ICD-10-CM/PCS MS-DRG v37.0 Definitions Manual. Primary cutaneous CD30-positive T-cell proliferations. Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] Iron deficiency anemia secondary to blood loss (chronic) Vitamin B12 deficiency anemia due to intrinsic factor deficiency

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vitamin D insufficiency is 21-29 ng/mL and. vitamin D sufficiency is ≥30 ng/mL. Although definitions of vitamin D sufficiency and deficiency vary, it is widely believed that a vitamin D level ≥20 ng/mL is adequate for bone health [ 6 ]. Vitamin D deficiency has the potential to cause rickets and osteomalacia height of 72.5 cm (below the fifth percen- malities in the gene coding for 25(OH)D known as vitamin D-resistant rickets or familial hypophosphatemic rick

Rickets refractory to vitamin D treatment may be caused by the most common heritable form, known as vitamin D-resistant rickets or familial hypophosphatemic rickets.15, 16 Because of mutations. ICD-10-CM/PCS codes version 2016/2017/2018/2019/2020/2021, ICD10 data search engin Hypophosphatemia & Vitamin D Deficiency with Rickets Symptom Checker: Possible causes include Vitamin D Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search

ICD-10-CM Code M83 - Adult osteomalaci

1. Download the ICD-10-CM app by Unbound Medicine. 2. Select Try/Buy and follow instructions to begin your free 30-day trial. You can cancel anytime within the 30-day trial, or continue using ICD-10-CM to begin a 1-year subscription ($39.95) E64.2 - Sequelae of vitamin C deficiency. Code. Code Tree. Map to ⑨ Periostitis & Vitamin D Deficiency with Rickets Symptom Checker: Possible causes include Vitamin D Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search For children and adolescents with low vitamin D levels but without clinical signs of rickets, vitamin D3 (cholecalciferol) should be given at the following doses: • 400-800 IU orally per day if the 25-OH vitamin D level is 20-30 ng/mL • 1000 IU orally per day if the 25-OH vitamin D level is <20 ng/m

ICD-10-CM Code E83.32 - Hereditary vitamin D-dependent ..

Quick Search Help. Quick search helps you quickly navigate to a particular category. It searches only titles, inclusions and the index and it works by starting to search as you type and provide you options in a dynamic dropdown list.. You may use this feature by simply typing the keywords that you're looking for and clicking on one of the items that appear in the dropdown list View topics in the Sample Entries E section of ICD-10-CM 2021. ICD-10-CM 2021 Coding Guide™ from Unbound Medicine. Search online 72,000+ ICD-10 codes by number, disease, injury, drug, or keyword 2-Vitamin D dependent • Vitamin D-dependent rickets, type I • is secondary to a defect in the gene that codes for the production of renal 25(OH)D3-1-alpha- hydroxylase. Different from simple rickets 1- early onset- 3-6 month 2- history of adequate intake of vitD and sun exposure 3-normal 25 hydroy vit D but low 1,25 dihydroxy D3 The disease is due to inactivating mutations in the CYP27B1 gene (12q14) that codes for 1-alpha-hydroxylase which converts the vitamin D precursor calcidiol to calcitriol, the vitamin D active metabolite. This defect in the synthesis of vitamin D leads to defective intestinal absorption of calcium and phosphate