2020 ICD-10-CM Diagnosis Code E78.72

Smith-Lemli-Opitz syndrome

    2016 2017 2018 2019 2020 Billable/Specific Code
  • E78.72 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 E78.72 became effective on October 1, 2019.
  • This is the American ICD-10-CM version of E78.72 - other international versions of ICD-10 E78.72 may differ.
The following code(s) above E78.72 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 E78.72:
  • 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
  • E78
    ICD-10-CM Diagnosis Code E78

    Disorders of lipoprotein metabolism and other lipidemias

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    Disorders of lipoprotein metabolism and other lipidemias
  • E78.7
    ICD-10-CM Diagnosis Code E78.7

    Disorders of bile acid and cholesterol metabolism

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    • Niemann-Pick disease type C (E75.242)
    Disorders of bile acid and cholesterol metabolism
Approximate Synonyms
  • Smith lemli opitz syndrome
Clinical Information
  • A rare, autosomal recessive syndrome caused by mutations in the dhcr7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
  • A syndrome with variable characteristics marked mainly by short stature, mental deficiency, microcephaly, postaxial polydactyly, cleft palate, cardiovascular defects, genital malformations, and other abnormalities associated with defective cholesterol metabolism. The fundamental biochemical abnormality appears to be a primary or secondary deficiency of 7-dhc-reductase (3-beta-hydroxysteroid-delta7-reductase causing deficient synthesis of cholesterol. Two types are recognized: type i comprising the milder manifestations. Type ii representing severe forms, consisting of male pseudohermaphroditism, polydactyly with frequent early lethality. The designation rsh represents initials of the surnames of the first three patients in whom the syndrome was first observed.
  • An autosomal recessive disorder of cholesterol metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and intellectual disability.
  • Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
ICD-10-CM E78.72 is grouped within Diagnostic Related Group(s) (MS-DRG v37.0):
  • 564 Other musculoskeletal system and connective tissue diagnoses with mcc
  • 565 Other musculoskeletal system and connective tissue diagnoses with cc
  • 566 Other musculoskeletal system and connective tissue diagnoses without cc/mcc

Convert E78.72 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
Code annotations containing back-references to E78.72:
  • Type 1 Excludes: Q87.1
    ICD-10-CM Diagnosis Code Q87.1

    Congenital malformation syndromes predominantly associated with short stature

      2016 2017 2018 2019 2020 - Converted to Parent Code Non-Billable/Non-Specific Code
    Type 1 Excludes
    • Ellis-van Creveld syndrome (Q77.6)
    • Smith-Lemli-Opitz syndrome (E78.72)

Diagnosis Index entries containing back-references to E78.72:
  • Disorder (of) - see also Disease
    • bile acid and cholesterol metabolism E78.70
      ICD-10-CM Diagnosis Code E78.70

      Disorder of bile acid and cholesterol metabolism, unspecified

        2016 2017 2018 2019 2020 Billable/Specific Code
      • Smith-Lemli-Opitz syndrome E78.72
    • cholesterol and bile acid metabolism E78.70
      ICD-10-CM Diagnosis Code E78.70

      Disorder of bile acid and cholesterol metabolism, unspecified

        2016 2017 2018 2019 2020 Billable/Specific Code
      • Smith-Lemli-Opitz syndrome E78.72
  • Smith-Lemli-Opitz syndrome E78.72

ICD-10-CM Codes Adjacent To E78.72
E78.2 Mixed hyperlipidemia
E78.3 Hyperchylomicronemia
E78.4 Other hyperlipidemia
E78.41 Elevated Lipoprotein(a)
E78.49 Other hyperlipidemia
E78.5 Hyperlipidemia, unspecified
E78.6 Lipoprotein deficiency
E78.7 Disorders of bile acid and cholesterol metabolism
E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
E78.71 Barth syndrome
E78.72 Smith-Lemli-Opitz syndrome
E78.79 Other disorders of bile acid and cholesterol metabolism
E78.8 Other disorders of lipoprotein metabolism
E78.81 Lipoid dermatoarthritis
E78.89 Other lipoprotein metabolism disorders
E78.9 Disorder of lipoprotein metabolism, unspecified
E79 Disorders of purine and pyrimidine metabolism
E79.0 Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
E79.1 Lesch-Nyhan syndrome
E79.2 Myoadenylate deaminase deficiency
E79.8 Other disorders of purine and pyrimidine metabolism

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