2020 ICD-10-CM Diagnosis Code E71.540

Rhizomelic chondrodysplasia punctata

    2016 2017 2018 2019 2020 Billable/Specific Code
  • E71.540 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 E71.540 became effective on October 1, 2019.
  • This is the American ICD-10-CM version of E71.540 - other international versions of ICD-10 E71.540 may differ.
Type 1 Excludes
Type 1 Excludes Help
A type 1 excludes note is a pure excludes. It means "not coded here". A type 1 excludes note indicates that the code excluded should never be used at the same time as E71.540. A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
  • chondrodysplasia punctata NOS (
    ICD-10-CM Diagnosis Code Q77.3

    Chondrodysplasia punctata

      2016 2017 2018 2019 2020 Billable/Specific Code POA Exempt
    Type 1 Excludes
    • Rhizomelic chondrodysplasia punctata (E71.43)
    Q77.3
    )
The following code(s) above E71.540 contain annotation back-references
Annotation Back-References
In this context, annotation back-references refer to codes that contain:
  • Applicable To annotations, or
  • Code Also annotations, or
  • Code First annotations, or
  • Excludes1 annotations, or
  • Excludes2 annotations, or
  • Includes annotations, or
  • Note annotations, or
  • Use Additional annotations
that may be applicable to E71.540:
  • E00-E89
    2020 ICD-10-CM Range E00-E89

    Endocrine, nutritional and metabolic diseases

    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 hyperfunction and hypofunction of endocrine glands associated with neoplasms and other conditions classified elsewhere.
    Type 1 Excludes
    • transitory endocrine and metabolic disorders specific to newborn (P70-P74)
    Endocrine, nutritional and metabolic diseases
  • E70-E88
    2020 ICD-10-CM Range E70-E88

    Metabolic disorders

    Type 1 Excludes
    • androgen insensitivity syndrome (E34.5-)
    • congenital adrenal hyperplasia (E25.0)
    • Ehlers-Danlos syndrome (Q79.6-)
    • hemolytic anemias attributable to enzyme disorders (D55.-)
    • Marfan's syndrome (Q87.4)
    • 5-alpha-reductase deficiency (E29.1)
    Metabolic disorders
  • E71.5
    ICD-10-CM Diagnosis Code E71.5

    Peroxisomal disorders

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    • Schilder's disease (G37.0)
    Peroxisomal disorders
Approximate Synonyms
  • Rhizomelic chondrodysplasia punctata syndrome
Clinical Information
  • An autosomal recessive form of chondrodysplasia punctata characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (from scriver et al, metabolic basis of inherited disease, 6th ed, p1497)
  • An autosomal recessive inherited peroxisomal disorder caused by mutations in the pex7, dhapat, and agp genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.
ICD-10-CM E71.540 is grouped within Diagnostic Related Group(s) (MS-DRG v37.0):
  • 642 Inborn and other disorders of metabolism

Convert E71.540 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

Diagnosis Index entries containing back-references to E71.540:
  • Disorder (of) - see also Disease
    • peroxisomal E71.50
      ICD-10-CM Diagnosis Code E71.50

      Peroxisomal disorder, unspecified

        2016 2017 2018 2019 2020 Billable/Specific Code
      • rhizomelic chondrodysplasia punctata E71.540
  • Rhizomelic chondrodysplasia punctata E71.540

ICD-10-CM Codes Adjacent To E71.540
E71.511 Neonatal adrenoleukodystrophy
E71.518 Other disorders of peroxisome biogenesis
E71.52 X-linked adrenoleukodystrophy
E71.520 Childhood cerebral X-linked adrenoleukodystrophy
E71.521 Adolescent X-linked adrenoleukodystrophy
E71.522 Adrenomyeloneuropathy
E71.528 Other X-linked adrenoleukodystrophy
E71.529 …… unspecified type
E71.53 Other group 2 peroxisomal disorders
E71.54 Other peroxisomal disorders
E71.540 Rhizomelic chondrodysplasia punctata
E71.541 Zellweger-like syndrome
E71.542 Other group 3 peroxisomal disorders
E71.548 Other peroxisomal disorders
E72 Other disorders of amino-acid metabolism
E72.0 Disorders of amino-acid transport
E72.00 …… unspecified
E72.01 Cystinuria
E72.02 Hartnup's disease
E72.03 Lowe's syndrome
E72.04 Cystinosis

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.