FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

128190004: Inherited metabolic disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

128 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited metabolic disorder of nervous system est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Inherited metabolic disorder of nervous system est un(e) (attribut) Inborn error of metabolism true Inferred relationship Some
Inherited metabolic disorder of nervous system survenue (attribut) congénital true Inferred relationship Some 1
Inherited metabolic disorder of nervous system localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
syndrome de cataracte congénitale-surdité-retard de développement sévère est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Lipoic acid synthetase deficiency (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with cerebellar involvement est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 11 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Navajo neurohepatopathy est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 30 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 29 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 27 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 23 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 3 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Ethylmalonic encephalopathy (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Hereditary hyperekplexia (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Leber's optic atrophy (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
aspartylglucosaminurie (trouble) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
HSMN IV est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
lipoïdose cérébrale est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
déficit en alpha-N-acétylgalactosaminidase est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Acyl-coenzyme A oxidase deficiency (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Thyrotoxicosis due to pituitary thyroid hormone resistance est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial pyruvate carrier deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Megaconial congenital muscular dystrophy est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Limb girdle muscular dystrophy due to POMK deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Acute neuronopathic Gaucher's disease est un(e) (attribut) False Inherited metabolic disorder of nervous system Inferred relationship Some
Arginase deficiency est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
sialidose est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Globoid cell leucodystrophy, late-onset est un(e) (attribut) False Inherited metabolic disorder of nervous system Inferred relationship Some
céroïde-lipofuscinose neuronale est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
gangliosidose (trouble) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
maladie de Niemann-Pick type A (trouble) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Subacute neuronopathic Gaucher's disease est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) False Inherited metabolic disorder of nervous system Inferred relationship Some
Deficiency of cerebroside-sulfatase est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Alexander's disease est un(e) (attribut) False Inherited metabolic disorder of nervous system Inferred relationship Some
Niemann-Pick disease, type C, acute form est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Pyruvate carboxylase deficiency est un(e) (attribut) False Inherited metabolic disorder of nervous system Inferred relationship Some
Deficiency of monoamine oxidase A (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Encephalopathy due to prosaposin deficiency (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Ganglioside GM3 synthase deficiency (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Thiamine-responsive encephalopathy (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Mucolipidosis type IV (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) est un(e) (attribut) True Inherited metabolic disorder of nervous system Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start