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E20.1

(PSEUDOHYPOPARA THYRODISM)

Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone. A related condition is hypoparathyroidism, in which the body does not make enough parathyroid hormone.

Pseudohypoparathyroidism is caused by changes ( mutations ) in a number of different genes including the GNAS1 gene. When this gene is not working correctly, the body is not able to properly respond to parathyroid hormone , which increases the level of phosphorous in the blood and decreases the level of calcium.

Pseudohypoparathyroidism (PHP) is a state of parathyroid hormone resistance and is characterised by low serum calcium, and elevated serum phosphate and parathyroid hormone level. Association of PHP with autoimmune disorders is rare and seldom reported in the literature.

Pseudohypoparathyroidism is a hereditary disorder inherited either through X- linked dominant genes or through autosomal dominant genes. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In addition to low active vitamin D levels, higher than normal phosphate frequently accumulates in the blood due to declining GFR. The low active vitamin D levels and high phosphate levels both lead to increased release of parathyroid hormone.

• E20.1 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 E20.1 became effective on October 1, 2021.
• This is the American ICD-10-CM version of E20.1 - other international versions of ICD-10 E20.1 may differ.

The following code(s) above E20.1 contain annotation back-references

 that may be applicable to E20.1:

• E00-E89 
   Endocrine, nutritional and metabolic diseases
• E20-E35 
   Disorders of other endocrine glands
• E20 
   Hypoparathyroidism

Approximate Synonyms

• Pseudopseudohypoparathyroidism

Clinical Information

• A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.
• A hereditary syndrome clinically similar to hypoparathyroidism. It is characterized by hypocalcemia; hyperphosphatemia; and associated skeletal development impairment and caused by failure of response to parathyroid hormone rather than deficiencies. A severe form with resistance to multiple hormones is referred to as type 1a and is associated with maternal mutant allele of the alpha chain of stimulatory g protein.
• Hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.
• Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (pth) and designated as "pseudohypoparathyroidism." albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." two separate forms of pseudohypoparathyroidism are recognized. Type i in which there is no increase in the urinary excretion of cyclic adenosine monophosphate (camp) and phosphate in response to parathyroid hormone (pth). Type ii in which there is a response to pth, but without phosphate diuresis. The erythrocytes of some patients with type i contain a defective receptor-cyclase coupling protein (stimulatory guanine nucleoside-binding protein, or gs) which is responsible for coupling the cellular receptor that binds parathyroid hormone (pth) and is involved with the formation and release of cyclic adenosine monophosphate (camp). This variant has been designated as "pseudohypoparathyroidism type ia." the syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects.

ICD-10-CM E20.1 is grouped within Diagnostic Related Group(s) (MS-DRG v39.0):

• 640 Miscellaneous disorders of nutrition, metabolism, fluids and electrolytes with mcc
• 641 Miscellaneous disorders of nutrition, metabolism, fluids and electrolytes without mcc

Convert E20.1 to ICD-9-CM

Code History

• 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
• 2017 (effective 10/1/2016): No change
• 2018 (effective 10/1/2017): No change
• 2019 (effective 10/1/2018): No change
• 2020 (effective 10/1/2019): No change
• 2021 (effective 10/1/2020): No change
• 2022 (effective 10/1/2021): No change

Code annotations containing back-references to E20.1:

• Type 1 Excludes: E34
  , E31
• Type 2 Excludes: E34.8

Diagnosis Index entries containing back-references to E20.1:

• Pseudohypoparathyroidism E20.1
• Pseudopseudohypoparathyroidism E20.1

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