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Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [1]
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
[10] [11] [12] The prevalence of the disease is 1 in 20,000. [13] X-linked hypophosphatemia may be lumped in with autosomal dominant hypophosphatemic rickets under general terms such as hypophosphatemic rickets. Hypophosphatemic rickets are associated with at least nine other genetic mutations. [14]
Under the proposal, the ICD-9-CM code sets would be replaced with the ICD-10-CM code sets, effective October 1, 2013. On April 17, 2012, the Department of Health and Human Services (HHS) published a proposed rule that would delay the compliance date for the ICD-10-CM and PCS by 12 months-from October 1, 2013, to October 1, 2014. [4]
The ICD-10 Procedure Coding System (ICD-10-PCS) is a US system of medical classification used for procedural coding.The Centers for Medicare and Medicaid Services, the agency responsible for maintaining the inpatient procedure code set in the U.S., contracted with 3M Health Information Systems in 1995 to design and then develop a procedure classification system to replace Volume 3 of ICD-9-CM.
Classification System Detail ICD-9-CM: Volumes 1 and 2 only. Volume 3 contains Procedure codes: ICD-10: The international standard since about 1998 ICPC-2: Also includes reasons for encounter (RFE), procedure codes and process of care
Mutations in the ALPL gene lead to varying low activity of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP or TNAP) resulting in hypophosphatasia (HPP). [21] There are different clinical forms of HPP which can be inherited by an autosomal recessive trait or autosomal dominant trait, [ 18 ] the former causing more severe forms of the ...