2024 ICD-10-CM Diagnosis Code P94.2

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
• Benign congenital hypotonia
• Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• Congenital hypoplasia of ulna
• Cystinuria
• Cystinuria, type 1
• Flaccid newborn
• Floppy infant syndrome
• Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
• Hypertrophic mitochondrial cardiomyopathy
• Hypotonia, speech impairment, severe cognitive delay syndrome
• Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
• Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
• Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• Left ventricular myocardial noncompaction cardiomyopathy
• Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
• Multiple congenital anomalies, hypotonia, seizures syndrome
• Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• Puerto Rican infant hypotonia syndrome
• Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
• Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• Ventricular myocardial noncompaction cardiomyopathy

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.

• Benign Congenital Hypotonia

  mild hypotonia that usually appears early in infancy and has a favorable outcome. it is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy).

• 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 P94.2 to ICD-9-CM

• ICD-9-CM Code: 779.89 - Perinatal condition NEC
  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

Muscle Disorders

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis.

Causes of muscle disorders include:

• Injury or overuse, such as sprains or strains, cramps or tendinitis
• A genetic disorder, such as muscular dystrophy
• Some cancers
• Inflammation, such as myositis
• Diseases of nerves that affect muscles
• Infections
• Certain medicines

Sometimes the cause of muscle disorders is unknown.

[Learn More in MedlinePlus]

Uncommon Infant and Newborn Problems

It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away.

Learning information about your baby's condition can help ease your worry. Do not be afraid to ask questions about your baby's care. By working together with your health care provider, you make sure that your baby gets the best care possible.

[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.