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86095007: Inborn error of metabolism (disorder)

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

Descriptions:

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

703 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 Some
Inborn error of metabolism Is a Congenital disease (disorder) true Inferred relationship Some
Inborn error of metabolism Is a Metabolic disease false Inferred relationship Some
Inborn error of metabolism Occurrence Congenital true Inferred relationship Some 1
Inborn error of metabolism Finding site Body system structure false Inferred relationship Some
Inborn error of metabolism Is a Hereditary disease false Inferred relationship Some
Inborn error of metabolism Is a Hereditary metabolic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial renal iminoglycinuria Is a True Inborn error of metabolism Inferred relationship Some
Classical phenylketonuria Is a False Inborn error of metabolism Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Ornithine carbamoyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Biotinidase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Erythropoietic protoporphyria Is a True Inborn error of metabolism Inferred relationship Some
Inherited disorder of bilirubin metabolism Is a True Inborn error of metabolism Inferred relationship Some
Porphobilinogen synthase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Inborn errors of metabolism screen Has focus True Inborn error of metabolism Inferred relationship Some 2
Gout screening Has focus False Inborn error of metabolism Inferred relationship Some
Essential pentosuria (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Inborn error of metabolism diet education (procedure) Has focus True Inborn error of metabolism Inferred relationship Some 2
Amino acid metabolism disorder diet education (procedure) Has focus True Inborn error of metabolism Inferred relationship Some 3
Carnitine deficiency due to inborn error of metabolism (disorder) Due to True Inborn error of metabolism Inferred relationship Some 1
Lysosomal acid lipase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) Is a False Inborn error of metabolism Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) Is a False Inborn error of metabolism Inferred relationship Some
Ethylmalonic encephalopathy (disorder) Is a False Inborn error of metabolism Inferred relationship Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Is a False Inborn error of metabolism Inferred relationship Some
Hereditary hyperekplexia (disorder) Is a False Inborn error of metabolism Inferred relationship Some
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) Is a False Inborn error of metabolism Inferred relationship Some
CK syndrome Is a True Inborn error of metabolism Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a False Inborn error of metabolism Inferred relationship Some
Lipoyl transferase 1 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Congenital muscular dystrophy without intellectual disability (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Dyshormonogenic goiter Is a True Inborn error of metabolism Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Multiple carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Deficiency of galactose mutarotase Is a True Inborn error of metabolism Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Phenylketonuria Is a True Inborn error of metabolism Inferred relationship Some
Severe primary trimethylaminuria (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Inborn error of metabolism Inferred relationship Some
Chorea due to inborn error of metabolism (disorder) Due to True Inborn error of metabolism Inferred relationship Some 2
Lipoyl transferase 2 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Autosomal recessive extra-oral halitosis Is a True Inborn error of metabolism Inferred relationship Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Xp21 deletion syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Hyperinsulinism and hyperammonemia syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Deficiency of Xaa-Pro dipeptidase Is a True Inborn error of metabolism Inferred relationship Some
Hereditary butyrylcholinesterase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Some
Digenic haemochromatosis Is a True Inborn error of metabolism Inferred relationship Some
Glucose-galactose malabsorption Is a True Inborn error of metabolism Inferred relationship Some

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