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86095007: Inborn error of metabolism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
142765013 Inborn error of metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
828286015 Inborn error of metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1235095013 IBEM - Inborn error of metabolism en Synonym Active Entire term case sensitive SNOMED CT core module
1235096014 IEM - Inborn error of metabolism en Synonym Active Entire term case sensitive SNOMED CT core module

683 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn error of metabolism Is a Hereditary disorder by system false Inferred relationship Existential restriction modifier
Inborn error of metabolism Is a Congenital disease true Inferred relationship Existential restriction modifier
Inborn error of metabolism Is a Metabolic disease false Inferred relationship Existential restriction modifier
Inborn error of metabolism Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inborn error of metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier
Inborn error of metabolism Is a Hereditary disease false Inferred relationship Existential restriction modifier
Inborn error of metabolism Is a Hereditary metabolic disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial renal iminoglycinuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Classical phenylketonuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Gamma-glutamyl transpeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Erythropoietic protoporphyria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inherited disorder of bilirubin metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Porphobilinogen synthase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn errors of metabolism screen Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier 2
Gout screening Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier
Essential pentosuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn error of metabolism diet education Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier 2
Amino acid metabolism disorder diet education Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier 3
Carnitine deficiency due to inborn error of metabolism Due to True Inborn error of metabolism Inferred relationship Existential restriction modifier 1
Lysosomal acid lipase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Folinic acid responsive seizure syndrome Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Genetic recurrent myoglobinuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Ethylmalonic encephalopathy Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary hyperekplexia Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary combined deficiency of vitamin K-dependent clotting factors Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary hypercarotenemia and vitamin A deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Pyridoxine-dependent epilepsy Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
CK syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Lipoyl transferase 1 deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Congenital muscular dystrophy without intellectual disability Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Dyshormonogenic goiter Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Synthetic defect of bile acids Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Multiple carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of galactose mutarotase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Heme oxygenase-1 deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Phenylketonuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Severe primary trimethylaminuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Chorea due to inborn error of metabolism Due to True Inborn error of metabolism Inferred relationship Existential restriction modifier 2
Blood spot isovaleric acidaemia screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier 3
Blood spot maple syrup urine disease screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier 3
Blood spot glutaric aciduria type 1 screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier 3
Blood spot homocystinuria screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier 3
Blood spot glutaric aciduria type 1 screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier
Blood spot isovaleric acidaemia screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier
Blood spot homocystinuria screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier
Blood spot maple syrup urine disease screening test Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier

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