2024 ICD-10-CM Diagnosis Code E72.01

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Atypical hypotonia cystinuria syndrome
• Cystinuria
• Cystinuria
• Cystinuria, type 1
• Cystinuria, type 1
• Cystinuria, type 2
• Cystinuria, type 3
• Hypotonia cystinuria syndrome
• Isolated cystinuria

Clinical Information

• Cystinuria

  an inherited disorder due to defective reabsorption of cystine and other basic amino acids by the proximal renal tubules. this form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; lysine; arginine; and ornithine. mutations involve the amino acid transport protein gene slc3a1.

• Arakawa Syndrome II|Arakawa's Syndrome 2|Arakawa's Syndrome II|Homocystinuria-Megaloblastic Anemia, cblG Complementation Type|Methionine Synthase Deficiency|Methylcobalamin Deficiency, cblG Type|Tetrahydrofolate Methyltransferase Deficiency|Tetrahydrofolate Methyltransferase Deficiency

  a rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. it results in the abnormal metabolism of methylcobalamin. signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.

• Cystinuria

  an autosomal recessive inherited metabolic disorder caused by mutations in the slc3a1 and slc7a9 genes. it is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. it results in the formation of stones in the kidney, ureter, and urinary bladder.

• Homocystinuria

  an autosomal recessive inherited metabolic disorder caused by mutations in the cbs, mthfr, mtr, and mtrr genes. it is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. it results in the accumulation of homocysteine in the serum. it may affect the cardiovascular, musculoskeletal and the central nervous systems.

• Homocystinuria-Megaloblastic Anemia, cblE Complementation Type|HMAE|Methylcobalamin Deficiency, cblE Type

  an autosomal recessive condition caused by mutation(s) in the mtrr gene, encoding methionine synthase reductase. it is characterized by homocystinuria and megaloblastic anemia.

• Methylmalonic Aciduria and Homocystinuria Type D Protein, Mitochondrial|C2orf25 Protein|MMADHC|Methylmalonic Aciduria, cblD Type, And Homocystinuria Protein|Uncharacterized Protein C2orf25, Mitochondrial

  methylmalonic aciduria and homocystinuria type d protein, mitochondrial (296 aa, ~33 kda) is encoded by the human mmadhc gene. this protein plays a role in vitamin metabolism.

• Methylmalonic Aciduria and Homocystinuria, cblC Type

  an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the mmachc gene, encoding methylmalonic aciduria and homocystinuria type c protein.

• Methylmalonic Aciduria and Homocystinuria, cblD Type|MAHCD

  an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the mmadhc gene, encoding cobalamin trafficking protein cbld.

• Methylmalonic Aciduria and Homocystinuria, cblF Type|MAHCF

  an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the lmbrd1 gene, encoding lysosomal cobalamin transport escort protein lmbd1.

• Methylmalonic Aciduria and Homocystinuria, cblJ Type|MAHCJ

  an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the abcd4 gene, encoding lysosomal cobalamin transporter abcd4.

• MMADHC Gene|MMADHC|MMADHC|Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria Gene

  this gene is involved in vitamin metabolism.

• MMADHC wt Allele|C2orf25|CL25022|Chromosome 2 Open Reading Frame 25 Gene|HSPC161|Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria wt Allele|Methylmalonic Aciduria, cblD Type, and Homocystinuria Gene|My011|cblD

  human mmadhc wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. this allele, which encodes methylmalonic aciduria and homocystinuria type d protein, mitochondrial, plays a role in the mediation of vitamin b12 metabolism. mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria.

Convert E72.01 to ICD-9-CM

• ICD-9-CM Code: 270.0 - Amino-acid transport dis
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

Kidney Stones

A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain.

The following may be signs of kidney stones that need a doctor's help:

• Extreme pain in your back or side that will not go away
• Blood in your urine
• Fever and chills
• Vomiting
• Urine that smells bad or looks cloudy
• A burning feeling when you urinate

Your doctor will diagnose a kidney stone with urine, blood, and imaging tests.

If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

[Learn More in MedlinePlus]

Cystinuria

Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine.

As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.

[Learn More in MedlinePlus]

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.