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86095007: Inborn error of metabolism (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1235095013 IBEM - Inborn error of metabolism en Synonym Active Case sensitive SNOMED CT core
1235096014 IEM - Inborn error of metabolism en Synonym Active Case sensitive SNOMED CT core
142765013 Inborn error of metabolism en Synonym Active Case insensitive SNOMED CT core
142766014 Inborn error of metabolism, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
828286015 Inborn error of metabolism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

681 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn error of metabolism Is a Hereditary metabolic disease true Inferred relationship Some
Inborn error of metabolism Is a Hereditary disease false Inferred relationship Some
Inborn error of metabolism Is a Hereditary disorder by system false Inferred relationship Some
Inborn error of metabolism Is a Congenital disease 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
Inbound Relationships Type Active Source Characteristic Refinability Group
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
5-aminolevulinic acid dehydratase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Trehalase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Disorder of pyrimidine metabolism Is a False Inborn error of metabolism Inferred relationship Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism 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
Defect in post-translational modification of lysosomal enzymes Is a True Inborn error of metabolism Inferred relationship Some
Enterokinase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Trypsinogen deficiency Is a True Inborn error of metabolism Inferred relationship Some
Unclassified metabolic disorder Is a False Inborn error of metabolism Inferred relationship Some
Amino acid/carbohydrate metabolic disorder Is a True Inborn error of metabolism Inferred relationship Some
Other amino acid/carbohydrate metabolic disorder Is a False Inborn error of metabolism Inferred relationship Some
Gout screening Has focus False Inborn error of metabolism Inferred relationship Some
Essential pentosuria Is a True Inborn error of metabolism Inferred relationship Some
Inborn error of metabolism diet education Has focus True Inborn error of metabolism Inferred relationship Some 2
Amino acid metabolism disorder diet education Has focus True Inborn error of metabolism Inferred relationship Some 3
Disorder of amino acid and organic acid metabolism Is a False Inborn error of metabolism Inferred relationship Some
Disorder of pyruvate metabolism and mitochondrial respiratory chain Is a True Inborn error of metabolism Inferred relationship Some
Purine and pyrimidine metabolism disorder Is a False Inborn error of metabolism Inferred relationship Some
Glucosaminoglycan metabolism disorder Is a True Inborn error of metabolism Inferred relationship Some
Glycoprotein metabolism disorder Is a True Inborn error of metabolism Inferred relationship Some
Disorder of sialic acid metabolism Is a True Inborn error of metabolism Inferred relationship Some
Disorder of porphyrin and haem metabolism Is a False Inborn error of metabolism Inferred relationship Some
Disorder of peroxisomal function Is a True Inborn error of metabolism Inferred relationship Some
Carnitine deficiency due to inborn error of metabolism Due to True Inborn error of metabolism Inferred relationship Some 1
Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency Is a False Inborn error of metabolism Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Lysosomal acid lipase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Folinic acid responsive seizure syndrome Is a False Inborn error of metabolism Inferred relationship Some
Genetic recurrent myoglobinuria Is a False Inborn error of metabolism Inferred relationship Some
Ethylmalonic encephalopathy 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 Is a False Inborn error of metabolism Inferred relationship Some
Hereditary combined deficiency of vitamin K-dependent clotting factors Is a True Inborn error of metabolism Inferred relationship Some
Hereditary hypercarotenaemia and vitamin A deficiency Is a True Inborn error of metabolism Inferred relationship Some
Pyridoxine-dependent epilepsy Is a False Inborn error of metabolism Inferred relationship Some
Hyperlipoproteinaemia, type I Is a False Inborn error of metabolism Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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