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128190004: Inherited metabolic disorder of nervous system (disorder)

Status: current, Defined. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

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

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 Some
Inherited metabolic disorder of nervous system Is a Inborn error of metabolism true Inferred relationship Some
Inherited metabolic disorder of nervous system Occurrence Congenital true Inferred relationship Some 1
Inherited metabolic disorder of nervous system Finding site Structure of nervous system true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Contiguous ABCD1 DXS1357E deletion syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Lipoic acid synthetase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with cerebellar involvement Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Navajo neurohepatopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 30 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 29 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 27 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 25 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 3 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome encephalomyopathic form Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Ethylmalonic encephalopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Hereditary hyperekplexia Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Pseudoprogeria syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Pyridoxine-dependent epilepsy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Recessive mitochondrial ataxia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Leber's optic atrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Aspartylglucosaminuria Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Phytanic acid storage disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Cerebral lipidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Acyl-CoA oxidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Folinic acid responsive seizure syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial pyruvate carrier deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Limb girdle muscular dystrophy due to POMK deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
MEPAN syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Acute neuronopathic Gaucher's disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Some
NAD(P)HX dehydratase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
NAD(P)HX epimerase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Fabry's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
WARS2-related combined oxidative phosphorylation defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Arginase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Sialidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Globoid cell leucodystrophy, late-onset Is a False Inherited metabolic disorder of nervous system Inferred relationship Some
Neuronal ceroid lipofuscinosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Gangliosidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Niemann-Pick disease, type A Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Subacute neuronopathic Gaucher's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Some
Deficiency of cerebroside-sulfatase Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Alexander's disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Some
Niemann-Pick disease, type C, acute form Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Pyruvate carboxylase deficiency Is a False Inherited metabolic disorder of nervous system Inferred relationship Some
Brunner syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Encephalopathy due to prosaposin deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Ganglioside GM3 synthase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Thiamine-responsive encephalopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Mucolipidosis type IV Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Deficiency of alpha-ketoglutarate dehydrogenase Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency juvenile form Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Inherited metabolic disorder of nervous system Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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