OMOP Concept 4027395
Inherited metabolic disorder of nervous system
StandardConditionSNOMED128190004Disorder
Maps from
0
Descendants
188
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Inherited metabolic disorder of nervous system across source vocabularies.
- Inherited metabolic disorder of nervous system (disorder)
- metabolopatía hereditaria del sistema nervioso
- metabolopatía hereditaria del sistema nervioso (trastorno)
- trastorno metabólico hereditario del sistema nervioso
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Hereditary disorder of nervous system
- 1Inborn error of metabolism
- 2Congenital disease
- 2Disorder of nervous system
- 2Hereditary disorder by system
- 2Hereditary metabolic disease
- 3Disorder of body system
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Genetic disease
- 5Clinical finding
Narrower concepts
(188)Included automatically when you query with descendants.
- 13-phosphoglycerate dehydrogenase deficiency infantile form
- 13-phosphoglycerate dehydrogenase deficiency juvenile form
- 1Acute neuronopathic Gaucher's disease
- 1Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
- 1Acyl-CoA oxidase deficiency
- 1Adrenoleukodystrophy
- 1Alpha-N-acetylgalactosaminidase deficiency
- 1Arginase deficiency
- 1Aromatic L-amino acid decarboxylase deficiency disorder
- 1Aspartylglucosaminuria
- 1Autism spectrum disorder, epilepsy, arthrogryposis syndrome
- 1Autosomal recessive cerebellar ataxia with late-onset spasticity
- 1Brunner syndrome
- 1CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
- 1Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
- 1Cerebral lipidosis
- 1Cholestanol storage disease
- 1COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation
- 1Combined deficiency of sialidase AND beta galactosidase
- 1Combined oxidative phosphorylation defect type 11
- 1Combined oxidative phosphorylation defect type 23
- 1Combined oxidative phosphorylation defect type 25
- 1Combined oxidative phosphorylation defect type 27
- 1Combined oxidative phosphorylation defect type 29
- 1Combined oxidative phosphorylation defect type 30
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