Hereditary degenerative disease of central nervous system

Code	`106018006`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20200131

12089330004H leucodystrophy disorder

65389002Adrenoleucodystrophy disorder

448054001Adult onset autosomal dominant leucodystrophy disorder

230312006Aicardi Goutieres syndrome disorder

1237515001Alkaline ceramidase 3 deficiency disorder

784341001Amyotrophic lateral sclerosis type 4 disorder

4113009Arrested hydrocephalus disorder

1296731001Atypical Krabbe disease due to saposin A deficiency disorder

1186856001Atypical pantothenate kinase associated neurodegeneration disorder

1222649004Auditory neuropathy, optic atrophy syndrome disorder

1156789004Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein disorder

1156800008Autosomal dominant Alzheimer disease due to mutation of presenilin 1 disorder

1156798001Autosomal dominant Alzheimer disease due to mutation of presenilin 2 disorder

716662004Autosomal dominant late onset Parkinson disease disorder

230313001Autosomal dominant late onset basal ganglia degeneration disorder

725392005Autosomal dominant striatal neurodegeneration disorder

776087007Autosomal recessive cerebral atrophy disorder

1156822001Autosomal recessive familial Parkinson disease disorder

1197151003Autosomal recessive isolated optic atrophy disorder

784347002Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome disorder

716994006Behavioural variant of frontotemporal dementia disorder

718221007Behr syndrome disorder

720576001Brain calcification Rajab type disorder

1172595004C11ORF73-related autosomal recessive hypomyelinating leucodystrophy disorder

726031001CAMOS syndrome disorder

702393003CHMP2B-related frontotemporal dementia disorder

1340172003CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome disorder

726669007Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome disorder

711482008Cerebroretinal microangiopathy with calcifications and cysts disorder

1172584005Childhood-onset basal ganglia degeneration syndrome disorder

1167373005Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder disorder

63246000Cholestanol storage disease disorder

1186861004Classical pantothenate kinase associated neurodegeneration disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

1172844009Combined oxidative phosphorylation defect type 27 disorder

782757004Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome disorder

720816004Craniosynostosis and intracranial calcification syndrome disorder

733044009Dermatoleukodystrophy disorder

716107009Early onset parkinsonism and intellectual disability syndrome disorder

1222661007Early-onset calcifying leucoencephalopathy, skeletal dysplasia disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

723306004Facial onset sensory and motor neuronopathy syndrome disorder

721219005Familial Alzheimer-like prion disease disorder

715807002Familial Creutzfeldt-Jakob disorder

1208478005Familial infantile bilateral striatal necrosis disorder

83157008Fatal familial insomnia disorder

774206008Fatal post-viral neurodegenerative disorder disorder

774151000Ferro-cerebro-cutaneous syndrome disorder

1348304006Fibrosis, neurodegeneration, cerebral angiomatosis syndrome disorder

702429008Frontotemporal dementia with parkinsonism-17 disorder

702426001GRN-related frontotemporal dementia disorder

192782005Galactosylceramide beta-galactosidase deficiency disorder

782690007Gemignani syndrome disorder

67155006Gerstmann-Straussler-Scheinker syndrome disorder

37650008Hereditary cerebellar degeneration disorder

26360005Hereditary optic atrophy disorder

39912006Hereditary spastic paraplegia disorder

784371009Huntington disease-like 1 disorder

721228006Huntington disease-like 2 disorder

782743001Huntington disease-like syndrome due to C9ORF72 expansions disorder

58756001Huntington's chorea disorder

1300130001Hypomyelination of early myelinating structures disorder

777999008Hypomyelination with brain stem and spinal cord involvement and leg spasticity disorder

763722004Hypotonia, speech impairment, severe cognitive delay syndrome disorder

724228005Infantile choroidocerebral calcification syndrome disorder

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1303585005Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome disorder

723830005Keratosis follicularis, dwarfism, cerebral atrophy syndrome disorder

1217370006LAMA5-related multisystemic syndrome disorder

29570005Leigh's disease disorder

703537008Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation disorder

1186710001Leucoencephalopathy with calcifications and cysts disorder

719405005Leucoencephalopathy with metaphyseal chondrodysplasia syndrome disorder

1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder

396338004Metachromatic leukodystrophy disorder

720010009Microphthalmia with brain atrophy syndrome disorder

778021002Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome disorder

1208621008Multiple mitochondrial dysfunctions syndrome type 4 disorder

1279890001Multiple mitochondrial dysfunctions syndrome type 5 disorder

1279891002Multiple mitochondrial dysfunctions syndrome type 6 disorder

733028000Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome disorder

785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder

1251446004NAD(P)HX dehydratase deficiency disorder

1251447008NAD(P)HX epimerase deficiency disorder

1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder

722488009Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency disorder

42012007Neuronal ceroid lipofuscinosis disorder

1220598005Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy disorder

1172586007Ocular anomalies, axonal neuropathy, developmental delay syndrome disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

774069007PRKAR1B-related neurodegenerative dementia with intermediate filaments disorder

1356741005Parkinsonism with polyneuropathy disorder

717042001Pelizaeus Merzbacher like disease disorder

64855000Pelizaeus-Merzbacher disease disorder

765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder

25362006Phytanic acid storage disease disorder

719140001Prieto Badia Mulas syndrome disorder

733422008Prion protein systemic amyloidosis disorder

230240004Progressive cerebellar ataxia with hypogonadism disorder

80328002Progressive cone-rod dystrophy disorder

442511009Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome disorder

770678005Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome disorder

783064000Progressive myoclonic epilepsy type 3 disorder

20415001Progressive sclerosing poliodystrophy disorder

1187043002Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome disorder

1220600004RARS-related autosomal recessive hypomyelinating leucodystrophy disorder

712637001RNA polymerase III-related leucodystrophy disorder

724002003Rambaud Gallian syndrome disorder

1172698005Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

722212004Severe X-linked mitochondrial encephalomyopathy disorder

1237618009Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome disorder

715504003Spastic paraparesis and deafness disorder

719205008Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome disorder

80544005Spongy degeneration of central nervous system disorder

1255271005Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome disorder

1251449006USP18 deficiency disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder

447351004Vanishing white matter disease disorder

88518009Wilson's disease disorder

70694009Wolfram syndrome disorder

Hereditary degenerative disease of central nervous system

Parents (2)

Children (121)