2023 ICD-10-CM Diagnosis Code E75.4

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Neuronal ceroid lipofuscinosis

    2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  • E75.4 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2023 edition of ICD-10-CM E75.4 became effective on October 1, 2022.
  • This is the American ICD-10-CM version of E75.4 - other international versions of ICD-10 E75.4 may differ.
Applicable To
  • Batten disease
  • Bielschowsky-Jansky disease
  • Kufs disease
  • Spielmeyer-Vogt disease
The following code(s) above E75.4 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 E75.4:
  • E00-E89
    2023 ICD-10-CM Range E00-E89

    Endocrine, nutritional and metabolic diseases

    • 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
    2023 ICD-10-CM Range E70-E88

    Metabolic disorders

    Type 1 Excludes
    • androgen insensitivity syndrome (E34.5-)
    • congenital adrenal hyperplasia (E25.0)
    • hemolytic anemias attributable to enzyme disorders (D55.-)
    • Marfan's syndrome (Q87.4)
    • 5-alpha-reductase deficiency (E29.1)
    Type 2 Excludes
    • Ehlers-Danlos syndromes (Q79.6-)
    Metabolic disorders
  • E75
    ICD-10-CM Diagnosis Code E75

    Disorders of sphingolipid metabolism and other lipid storage disorders

      2016 2017 2018 2019 2020 2021 2022 2023 Non-Billable/Non-Specific Code
    Type 1 Excludes
    Disorders of sphingolipid metabolism and other lipid storage disorders
Approximate Synonyms
  • Adult neuronal ceroid lipofuscinosis
  • Cerebral lipidosis
  • Juvenile neuronal ceroid lipofuscinosis
  • Lipofuscinosis, neuronal ceroid, adult
  • Lipofuscinosis, neuronal ceroid, juvenile
Clinical Information
  • A group of inherited progressive neurometabolic diseases, previously considered as several separate syndromic entities, with considerable variability in clinical, pathological manifestations, and genetic findings. All diseases in this groups are characterized by abnormal storage of the autofluorescent proteolipopigments in neuronal and other structures with an average incidence estimated at 1:5/100,000. Six principal types are classified on the basis of age of onset, clinical manifestations, pathological changes, and genetic features. There appears to be a lack of uniformity in classification of cln-5 and cln-6. Cln-5 boehme disease) is listed in omim in the autosomal dominant catalog (omim: 162350) without a cln number, and the late infantile variant as cln- 5 (omim: 256731). Cln-7 has been added to include atypical forms of neuronal ceroid-lipofuscinosis that have not been included in previous classifications. Neuronal ceroid-lipofuscinosis type 1 (cln-1) synonyms: hagberg-santavuori disease haltia-santavuori disease santavuori disease santavuori-haltia disease acute infantile neuronal ceroid-lipofuscinosis infantile finnish type of neuronal ceroid-lipofuscinosis infantile neuronal ceroid-lipofuscinosis (incl) polyunsaturated fatty acid lipidosis a variant encountered most frequently in finland, hence the synonym infantile finnish type of neuronal ceroid-lipofuscinosis, with onset at age 6 to 18 months and a subacute course. It is characterized by rapid deterioration with psychomotor retardation, loss of speech, seizures, ataxia, blindness, hypotonia, microcephaly, and occasional convulsions. Mapped to chromosome 1p32. The gene is known to be the palmityl-protein trioesterase. Transmitted as an autosomal recessive trait. (omim 256730) neuronal ceroid-lipofuscinosis type 2 (cln-2) synonyms: bernheimer-seitelberger syndrome bielschowsky amaurotic idiocy bielschowsky disease jansky-bielschowsky disease seitelberger disease late infantile amaurotic idiocy late infantile batten disease late infantile neuronal lipofuscinosis (lincl) subacute late infantile neuronal ceroid- lipofuscinosis the second most common variant with a subacute course after onset in infancy or early childhood characterized by refractive epilepsy, mental regression, ataxia, visual loss, and progressive deterioration. Mapped to chromosome 11p15. Pepstatin insensitive carboxypeptidase, 46dka protein, cys365->tyr, arg 208>umber stop codon, ag or intronic 3'spine junction to ac are the genetic features. Transmitted as an autosomal recessive trait. (omim 294500) neuronal ceroid-lipofuscinosis type 3 (cln-3) synonyms: batten syndrome (bts) batten-mayou syndrome batten-spielmeyer-vogt disease spielmeyer-sjogren syndrome spielmeyer-vogt-batten disease spielmeyer-vogt-sjogren disease stock-spielmeyer-vogt syndrome vogt-spielmeyer disease chronic juvenile neuronal ceroid-lipofuscinosis (jncl) juvenile amaurotic family idiocy juvenile amaurotic idiocy juvenile batten disease juvenile cerebrorenal degeneration juvenile neuronal lipofuscinosis (jncl) juvenile onset neuronal ceroid-lipofuscinosis pigmentary retinal neuronal heredodegeneration the most commonly occurring variant with a chronic course after juvenile onset with an estimated incidence of 1:25,000. The first symptom is usually visual failure which takes place between the ages of 4 and 15 years. The early symptoms are followed by epilepsy and progressive physical and mental deterioration. Batten disease gene maps to chromosome 16p12.1. 56 chromosome haplotype defined by alleles at the d16s299 is shared by 73% of batten disease chromosomes. Exon amplification of a cosmid containing d16s298 has yielded a candidate gene that is disrupted by kb genomic deletion in patients with 56 chromosomes. The disease gene encodes a 436 amino acid protein of unknown function. Transmitted as an autosomal recessive trait. (omim 294200) neuronal ceroid-lipofuscinosis type 4 (cln-4) synonyms: kufs disease kufs-mayer disease adult amaurotic idiocy adult ceroid lipofuscinosis adult ganglioside lipidosis adult neuronal ceroid-lipofuscinosis adult recessive neuronal ceroid lipofuscinosis chronic adult-recessive neuronal ceroid-lipofuscinosis late familial amaurotic idiocy late ganglioside lipidosis a rare variant with onset of symptoms between the ages of 20 and 50 years with a chronic course and associated with cerebellar ataxia, bulbar symptoms, and extrapyramidal and pyramidal signs, but without retinal lesions and rapidly progressive dementia. Transmitted as an autosomal recessive trait but some cases are sporadic. (omim 204300) neuronal ceroid-lipofuscinosis type 5 (cln-5) synonyms: boehme disease parry neuronal ceroid-lipofuscinosis adult dominant neuronal ceroid-lipofuscinosis chronic adult dominant neuronal ceroid-lipofuscinosis dominant kufs disease dominant neuronal ceroid-lipofuscinosis a cerebellar syndrome with onset early in fourth decade, characterized by epileptic fits, myoclonic epilepsy, progressive dementia, and hypertension. 11 cases were reported in four generations of a family named parry. Transmitted as an autosomal dominant trait. (omim 162350) neuronal ceroid-lipofuscinosis type 6 (cln-6) synonyms: zeman-dyken-lake-santavuori-savukoski disease subacute transitional early juvenile neuronal ceroid-lipofuscinosis a subacute variant with onset in late childhood or in early period with seizures, ataxia, retinal lesions, mental failure, and gradual neurological deterioration. Neuronal ceroid-lipofuscinosis type 7 (ncl-7) a group of previously unclassified atypical forms of ncl, representing about 12 to 20% of those afflicted, characterized by accumulation of ceroid-lipofuscin in the secondary lysosomes or neurons and cells of other tissues, as skin, conjunctiva, and lymphocytes.
  • A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.
  • A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (ceroid; lipofuscin) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive dementia; seizures; and visual failure.
  • A rare, often fatal, inherited neurodegenerative disorder characterized by the accumulation of lipopigments in the body. It is manifested in childhood. Signs and symptoms include progressive vision loss, progressive motor skills deterioration, mental impairment, and seizures.
  • Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.
  • Inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.
  • This type is caused by mutation in the cln2 gene encoding tripeptidyl-peptidase i, a lysosomal serine protease.
  • This type is caused by mutation in the cln3 gene encoding a lysosomal integral membrane protein (battenin).
ICD-10-CM E75.4 is grouped within Diagnostic Related Group(s) (MS-DRG v40.0):
  • 056 Degenerative nervous system disorders with mcc
  • 057 Degenerative nervous system disorders without mcc

Convert E75.4 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
  • 2021 (effective 10/1/2020): No change
  • 2022 (effective 10/1/2021): No change
  • 2023 (effective 10/1/2022): No change
Code annotations containing back-references to E75.4:
  • Code First: F02
    ICD-10-CM Diagnosis Code F02

    Dementia in other diseases classified elsewhere

      2016 2017 2018 2019 2020 2021 2022 2023 Non-Billable/Non-Specific Code
    Code First
    • the underlying physiological condition, such as:
    • Alzheimer's (G30.-)
    • cerebral lipidosis (E75.4)
    • Creutzfeldt-Jakob disease (A81.0-)
    • dementia with Lewy bodies (G31.83)
    • dementia with Parkinsonism (G31.83)
    • epilepsy and recurrent seizures (G40.-)
    • frontotemporal dementia (G31.09)
    • hepatolenticular degeneration (E83.0)
    • human immunodeficiency virus [HIV] disease (B20)
    • Huntington's disease (G10)
    • hypercalcemia (E83.52)
    • hypothyroidism, acquired (E00-E03.-)
    • intoxications (T36-T65)
    • Jakob-Creutzfeldt disease (A81.0-)
    • multiple sclerosis (G35)
    • neurosyphilis (A52.17)
    • niacin deficiency [pellagra] (E52)
    • Parkinson's disease (G20)
    • Pick's disease (G31.01)
    • polyarteritis nodosa (M30.0)
    • prion disease (A81.9)
    • systemic lupus erythematosus (M32.-)
    • traumatic brain injury (S06.-)
    • trypanosomiasis (B56.-, B57.-)
    • vitamin B deficiency (E53.8)
    • Major neurocognitive disorder in other diseases classified elsewhere
    Type 1 Excludes
    • mild neurocognitive disorder due to known physiological condition with or without behavioral disturbance (F06.7-)
    Type 2 Excludes

Diagnosis Index entries containing back-references to E75.4:
  • Amaurotic idiocy E75.4 (infantile) (juvenile) (late)
  • Batten (-Mayou) E75.4
    • retina E75.4
  • Bielschowsky E75.4 (-Jansky)
  • Ceroid-lipofuscinosis, neuronal E75.4
  • Degeneration, degenerative
    • brain (cortical) (progressive) G31.9
      ICD-10-CM Diagnosis Code G31.9

      Degenerative disease of nervous system, unspecified

        2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  • Disease, diseased - see also Syndrome
    • retina, retinal H35.9
      ICD-10-CM Diagnosis Code H35.9

      Unspecified retinal disorder

        2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
      • Batten's or Batten-Mayou E75.4
  • Idiot, idiocy (congenital) F73
    ICD-10-CM Diagnosis Code F73

    Profound intellectual disabilities

      2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
    Applicable To
    • IQ level below 20-25
    • Profound mental subnormality
    • amaurotic E75.4 (Bielschowsky(-Jansky)) (family) (infantile (late)) (juvenile (late)) (Vogt-Spielmeyer)
  • Jansky-Bielschowsky amaurotic idiocy E75.4
  • Kufs' disease E75.4
  • Lipidosis E75.6
    ICD-10-CM Diagnosis Code E75.6

    Lipid storage disorder, unspecified

      2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
    • cerebral E75.4 (infantile) (juvenile) (late)
    • cerebroretinal E75.4
  • Lipofuscinosis, neuronal E75.4 (with ceroidosis)
  • Spielmeyer-Vogt disease E75.4
  • Vogt-Spielmeyer amaurotic idiocy or disease E75.4

ICD-10-CM Codes Adjacent To E75.4
E75.241 …… type B
E75.242 …… type C
E75.243 …… type D
E75.244 …… type A/B
E75.248 Other Niemann-Pick disease
E75.249 …… unspecified
E75.25 Metachromatic leukodystrophy
E75.26 Sulfatase deficiency
E75.29 Other sphingolipidosis
E75.3 Sphingolipidosis, unspecified
E75.4 Neuronal ceroid lipofuscinosis
E75.5 Other lipid storage disorders
E75.6 Lipid storage disorder, unspecified
E76 Disorders of glycosaminoglycan metabolism
E76.0 Mucopolysaccharidosis, type I
E76.01 Hurler's syndrome
E76.02 Hurler-Scheie syndrome
E76.03 Scheie's syndrome
E76.1 Mucopolysaccharidosis, type II
E76.2 Other mucopolysaccharidoses
E76.21 Morquio mucopolysaccharidoses

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