Congenital neurological disorder	Hereditary disorder of nervous system	Inborn error of metabolism
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Inherited metabolic disorder of nervous system (disorder)
	Inherited metabolic disorder of nervous system
	hereditaire stoornis van metabolisme van zenuwstelsel
	erfelijke stofwisselingsziekte van zenuwstelsel erfelijke stofwisselingsstoornis van zenuwstelsel erfelijke stoornis van metabolisme van zenuwstelsel

Id	128190004
Status	Defined

Occurrence

Finding site

Structure of nervous system

ICD-10 complex map reference set

Target	E88.9
Rule	TRUE
Advice	ALWAYS E88.9
Correlation	SNOMED CT source code to target map code correlation not specified

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3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome

3-phosphoglycerate dehydrogenase deficiency infantile form

3-phosphoglycerate dehydrogenase deficiency juvenile form

Acyl-CoA oxidase deficiency

Allan-Herndon-Dudley syndrome

Alpha-N-acetylgalactosaminidase deficiency3

Arginase deficiency

Aspartylglucosaminuria

Autism spectrum disorder, epilepsy, arthrogryposis syndrome

Brunner syndrome

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

Cerebral lipidosis1

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

Combined deficiency of sialidase AND beta galactosidase

Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 23

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 29

Combined oxidative phosphorylation defect type 30

Congenital cataract, hearing loss, severe developmental delay syndrome

Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome

Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Contiguous ABCD1 DXS1357E deletion syndrome

Deficiency of alpha-ketoglutarate dehydrogenase

Deficiency of cerebroside-sulfatase1

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy due to prosaposin deficiency

Ethylmalonic encephalopathy

Folinic acid responsive seizure syndrome

Gangliosidosis2

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

GM3 synthase deficiency

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

Hereditary hyperekplexia

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

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

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

Leber's optic atrophy1

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

Leukoencephalopathy, dystonia, motor neuropathy syndrome

Limb girdle muscular dystrophy due to POMK deficiency

Lipoic acid synthetase deficiency

Male emopamil-binding protein disorder with neurological defect

Megaconial congenital muscular dystrophy

Mitochondrial DNA depletion syndrome encephalomyopathic form5

Mitochondrial DNA depletion syndrome hepatocerebrorenal form

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial pyruvate carrier deficiency

Mucolipidosis type IV

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 3

Multiple mitochondrial dysfunctions syndrome type 4

Myoclonic epilepsy myopathy sensory ataxia

Navajo neurohepatopathy

Neonatal epileptic encephalopathy due to glutaminase deficiency

Neuronal ceroid lipofuscinosis6

Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency2

Niemann-Pick disease, type A

Niemann-Pick disease, type C, acute form

Pseudoprogeria syndrome

Pyridoxine-dependent epilepsy

Recessive mitochondrial ataxia syndrome

Seizures, scoliosis, macrocephaly syndrome

Severe X-linked mitochondrial encephalomyopathy

Solute carrier family 35 member A2 congenital disorder of glycosylation

Subacute neuronopathic Gaucher's disease1

Thiamine-responsive encephalopathy

Thyrotoxicosis due to pituitary thyroid hormone resistance