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128190004: Inherited metabolic disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
206413012 Inherited metabolic disorder of nervous system en Synonym Active Entire term case insensitive SNOMED CT core module
732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

137 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited metabolic disorder of nervous system Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Inherited metabolic disorder of nervous system Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Inherited metabolic disorder of nervous system Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inherited metabolic disorder of nervous system Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Acute neuronopathic Gaucher's disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Arginase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Sialidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Globoid cell leukodystrophy, late-onset Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Neuronal ceroid lipofuscinosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Gangliosidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Niemann-Pick disease, type A Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Subacute neuronopathic Gaucher's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Deficiency of cerebroside-sulfatase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Alexander's disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Niemann-Pick disease, type C, acute form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Deficiency of monoamine oxidase A Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Encephalopathy due to prosaposin deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Ganglioside GM3 synthase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Thiamine-responsive encephalopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mucolipidosis type IV Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Deficiency of alpha-ketoglutarate dehydrogenase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency juvenile form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Contiguous ABCD1 DXS1357E deletion syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Lipoic acid synthetase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with cerebellar involvement Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 11 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Navajo neurohepatopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 30 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 29 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 27 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 25 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 23 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Seizures, scoliosis, macrocephaly syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Multiple mitochondrial dysfunctions syndrome type 3 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Combined deficiency of sialidase AND beta galactosidase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Ethylmalonic encephalopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary hyperekplexia Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Pyridoxine-dependent epilepsy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Recessive mitochondrial ataxia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Leber's optic atrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Aspartylglucosaminuria Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Phytanic acid storage disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral lipidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Acyl-coenzyme A oxidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Myoclonic epilepsy myopathy sensory ataxia Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Folinic acid responsive seizure syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial pyruvate carrier deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Megaconial congenital muscular dystrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Encephalopathy due to mitochondrial and peroxisomal fission defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
NAD(P)HX epimerase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Fabry's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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