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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
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
142765013 Inborn error of metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
161091000077112 erreur innée du métabolisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
435651000077118 erreur innée du métabolisme (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
828286015 Inborn error of metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

674 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn error of metabolism est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Inborn error of metabolism est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Inborn error of metabolism est un(e) (attribut) Congenital disease true Inferred relationship Some
Inborn error of metabolism est un(e) (attribut) trouble métabolique true Inferred relationship Some
Inborn error of metabolism survenue (attribut) congénital true Inferred relationship Some 1
Inborn error of metabolism localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Porphobilinogen synthase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Trehalase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of pyrimidine metabolism est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
dépistage des erreurs innées du métabolisme a pour objet (attribut) True Inborn error of metabolism Inferred relationship Some 2
Defect in post-translational modification of lysosomal enzymes est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Enterokinase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Trypsinogen deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Unclassified metabolic disorder est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Amino acid/carbohydrate metabolic disorder est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Other amino acid/carbohydrate metabolic disorder est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Gout screening a pour objet (attribut) False Inborn error of metabolism Inferred relationship Some
Essential pentosuria est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inborn error of metabolism diet education (procedure) a pour objet (attribut) True Inborn error of metabolism Inferred relationship Some 2
Amino acid metabolism disorder diet education (procedure) a pour objet (attribut) True Inborn error of metabolism Inferred relationship Some 3
Disorder of amino acid and organic acid metabolism est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Disorder of pyruvate metabolism and mitochondrial respiratory chain est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of purine and pyrimidine metabolism est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Disorder of glycosaminoglycan metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of glycoprotein metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of sialic acid metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of porphyrin and heme metabolism est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Disorder of peroxisomal function est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Carnitine deficiency due to inborn error of metabolism (disorder) Due to True Inborn error of metabolism Inferred relationship Some 1
HNSHA due to aldolase A deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
HNSHA due to glutathione synthetase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Lysosomal acid lipase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Ethylmalonic encephalopathy (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Hereditary hyperekplexia (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Hyperlipoproteinemia, type I est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some

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