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International Classification of Disease (ICD)

The US Department of Health and Human Services (HHS) has mandated the replacement of the ICD-9-CM code sets used by medical coders and billers to report health care diagnoses and procedures with ICD-10 codes, as of October 1, 2015 E78.71 became a billable code for Barth syndrome as a PRIMARY DIAGNOSIS. Supplemental coding information is provided below. Please note it is very important for Barth syndrome code E78.71 to be entered as the primary diagnosis (PDX).

How To Find (Barth syndrome) ICD-10 Diagnostic Code
Endocrine, nutritional and metabolic diseases (E00 – E89)
Metabolic disorders (E70 – E88)
Disorders of lipoprotein metabolism and other lipidemias (E78)
Disorders of bile acid and cholesterol metabolism (E78.7)
Barth syndrome = E78.71 (with dot)
Code Type: Diagnosis
Description: Barth syndrome

ICD-10 E7871/E78.71 (Barth Syndrome Diagnosis) to ICD-9 General Equivalence Mapping (GEM)

Source ICD-10 Target ICD-9
E7871 (Diagnosis) Barth syndrome 75989 (Diagnosis) – Specified congenital anomaly NEC (Other specified congenital anomalies)
E78.71 (Diagnosis) Barth syndrome 759.89 (Diagnosis) – Specified congenital anomaly NEC (Other specified congenital anomalies)

U.S. Department of Health and Human Services Health Centers for Medicare and Medicaid Services (CMS) Insurance Prospective Payment System (HIPPS) Codeset

Medicare Diagnostic Category  (MDC)

  • Musculoskeletal System and Connective Tissue = 08

Diagnostic Related Group (DRG)

  • Other Musculoskeletal Systems and Connective Tissue Diagnosis with MCC = 564

Medical Severity-DRG Code and Title (MS-DRG)

  • Primary Diagnosis (PDX) Barth syndrome = E7871 (without dot)
  • Primary Diagnosis (PDX) Collection = 1089:19
  • Barth syndrome = E7871 (without dot)

Orphanet Classification of Rare Heart Disease

  • Barth Syndrome: Orpha111

ADX: Admitting diagnosis
CC: Complications and Comorbidities
CMS: Centers for Medicare and Medicaid Services
DRGs or DRG: Diagnosis Related Groups
DX: Diagnosis
HCPCS: Healthcare Common Procedure Coding System
ICD-10: International Classification of Diseases 10th Revision
MCC: Major Complications and Comorbidities
MDC: Medicare Diagnostic Category
MS: Medical Severity
PCS: Procedure Coding System
PDX: Principal diagnosis
PPX: Principal Procedure
SDX: Secondary Diagnosis

ICD-9 to ICD-10 Mapping

The following codes have previously been used as a PDX; however, now that Barth syndrome has a distinct diagnostic code, it is important for these codes to be entered as secondary diagnosis code.

Cardiology Codes

ICD-9 Description ICD-9 Code ICD-10 Description ICD-10 Code
Cardiomegaly 429.3/4293 Cardiomegaly I51.7/I1517
Endocardial Fibroelastosis 425.3/4253 Endocardial Fibroelastosis NOTE: Predominantly associated with Restrictive cardiomyopathy I42.4/I424
Other Primary Cardiomyopathies 425.4/4254 Dilated cardiomyopathy I42.0/I420
Hypertrophic obstructive cardiomyopathy 425.11/42511 Obstructive hypertrophic cardiomyopathy I42.1/I421
Other hypertrophic cardiomyopathy 425.18/42518 Other hypertrophic cardiomyopathy I42.2/I422

Hematology Codes

Congenital Neutropenia 288.01/28801 Congenital Neutropenia D70.0/D700
Cyclic Neutropenia 288.02/28802 Cyclic Neutropenia D70.4/D704
Neutropenia, unspecified 288.00/28800 Neutropenia, unspecified Appropriate for Chronic Neutropenia D70.9/D709

Metabolism Codes

Specified congenital anomaly NEC (Other specified congenital anomalies) 759.89/75989 Barth syndrome E78.71/E7871
Disturbances of branched-chain amino acid metabolism 270.3/2703 3-methylglutaconic aciduria E71.111

Helpful Links
ICD-10 Code Search:
World Health Organization International Classification of Diseases (ICD):
Orphanet Disease Search:

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