Inherited metabolic disorder of nervous system

Code	`128190004`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20220430

7336370013-phosphoglycerate dehydrogenase deficiency infantile form disorder

7336360053-phosphoglycerate dehydrogenase deficiency juvenile form disorder

12246008Acute neuronopathic Gaucher's disease disorder

1340040004Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate disorder

238069004Acyl-CoA oxidase deficiency disorder

65389002Adrenoleucodystrophy disorder

238048001Alpha-N-acetylgalactosaminidase deficiency disorder

23501004Arginase deficiency disorder

1359952006Aromatic L-amino acid decarboxylase deficiency disorder disorder

54954004Aspartylglucosaminuria disorder

733623005Autism spectrum disorder, epilepsy, arthrogryposis syndrome disorder

763348005Autosomal recessive cerebellar ataxia with late-onset spasticity disorder

718210003Brunner syndrome disorder

1237417007CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation disorder

1220574003COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation disorder

1332382002COMMAD syndrome disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

16517004Cerebral lipidosis disorder

63246000Cholestanol storage disease disorder

35691006Combined deficiency of sialidase AND beta galactosidase disorder

783558004Combined oxidative phosphorylation defect type 11 disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

1173035001Combined oxidative phosphorylation defect type 25 disorder

1172844009Combined oxidative phosphorylation defect type 27 disorder

1172843003Combined oxidative phosphorylation defect type 29 disorder

1172841001Combined oxidative phosphorylation defect type 30 disorder

773648002Congenital cataract, hearing loss, severe developmental delay syndrome disorder

1208936008Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome disorder

718219002Congenital lactic acidosis Saguenay-Lac-Saint-Jean type disorder

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

783176002Congenital muscular dystrophy with cerebellar involvement disorder

783174004Congenital muscular dystrophy with intellectual disability disorder

782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy disorder

1366554003Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation disorder

773415005Contiguous ABCD1 DXS1357E deletion syndrome disorder

733630004Deficiency of alpha-ketoglutarate dehydrogenase disorder

66521008Deficiency of cerebroside-sulphatase disorder

1340174002Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome disorder

1236807002Encephalopathy due to mitochondrial and peroxisomal fission defect disorder

720864008Encephalopathy due to prosaposin deficiency disorder

763280005Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome disorder

723307008Ethylmalonic encephalopathy disorder

16652001Fabry's disease disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

722762005GM3 synthase deficiency disorder

192782005Galactosylceramide beta-galactosidase deficiency disorder

50967008Gangliosidosis disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

360416003Glutaryl-CoA dehydrogenase deficiency disorder

774205007Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome disorder

724351008Hereditary hyperekplexia disorder

764456001Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder

30287008Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome disorder

1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement disorder

782886007Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

58610003Leber's optic atrophy disorder

1172839002Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome disorder

733452000Leucoencephalopathy, dystonia, motor neuropathy syndrome disorder

1234819007Limb girdle muscular dystrophy due to POMK deficiency disorder

782744007Lipoic acid synthetase deficiency disorder

711409002MEGDEL syndrome disorder

1236805005MEPAN syndrome disorder

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

782739000Male emopamil-binding protein disorder with neurological defect disorder

1230273004Megaconial congenital muscular dystrophy disorder

396338004Metachromatic leukodystrophy disorder

765401006Mitochondrial DNA depletion syndrome encephalomyopathic form disorder

782771007Mitochondrial DNA depletion syndrome hepatocerebrorenal form disorder

783734000Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency disorder

1237514002Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome disorder

1217212009Mitochondrial pyruvate carrier deficiency disorder

725296006Mucolipidosis type IV disorder

785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder

773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder

1208486005Multiple mitochondrial dysfunctions syndrome type 2 disorder

1208620009Multiple mitochondrial dysfunctions syndrome type 3 disorder

1208621008Multiple mitochondrial dysfunctions syndrome type 4 disorder

1279890001Multiple mitochondrial dysfunctions syndrome type 5 disorder

1279891002Multiple mitochondrial dysfunctions syndrome type 6 disorder

699328003Myoclonic epilepsy myopathy sensory ataxia disorder

1251446004NAD(P)HX dehydratase deficiency disorder

1251447008NAD(P)HX epimerase deficiency disorder

237984008NARP syndrome disorder

784346006Navajo neurohepatopathy disorder

1186718008Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome disorder

1222662000Neonatal epileptic encephalopathy due to glutaminase deficiency disorder

42012007Neuronal ceroid lipofuscinosis disorder

237988006Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency disorder

52165006Niemann-Pick disease, type A disorder

86444004Niemann-Pick disease, type C, acute form disorder

25362006Phytanic acid storage disease disorder

733086003Pseudoprogeria syndrome disorder

734434007Pyridoxine-dependent developmental and epileptic encephalopathy disorder

782696001Recessive mitochondrial ataxia syndrome disorder

717053007Renal tubulopathy with encephalopathy and liver failure syndrome disorder

1187250005Seizures, scoliosis, macrocephaly syndrome disorder

1284855000Serine biosynthesis pathway deficiency, infantile/juvenile form disorder

722212004Severe X-linked mitochondrial encephalomyopathy disorder

38795005Sialidosis disorder

771516000Solute carrier family 35 member A2 congenital disorder of glycosylation disorder

1255323007Spastic ataxia, dysarthria due to glutaminase deficiency disorder

1360070001Spastic paraparesis, cataracts, speech delay syndrome disorder

1237418002Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome disorder

5963005Subacute neuronopathic Gaucher's disease disorder

723557004Thiamine-responsive encephalopathy disorder

1260128008WARS2-related combined oxidative phosphorylation defect disorder

Inherited metabolic disorder of nervous system

Parents (2)

Children (107)