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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
Progeria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hypophosphatasia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of amino acid and organic acid metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of pyruvate metabolism and mitochondrial respiratory chain Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of purine and pyrimidine metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of glycosaminoglycan metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of glycoprotein metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of sialic acid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of porphyrin and heme metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of peroxisomal function Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Familial lipoprotein lipase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary methemoglobinemia, enzymatic type Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Inherited metabolic disorder of nervous system Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Severe steroid 21-hydroxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Primary hyperoxaluria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Fructose-biphosphatase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Pyridoxine dependency syndrome Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of porphyrin metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Acetyl-CoA: acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Storage disease Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of fatty acid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Inherited disorder of folate metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Corticosterone 18-monooxygenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of lipoprotein AND/OR lipid metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
17 alpha-Hydroxyprogesterone aldolase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of acetyl-coenzyme A carboxylase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Testosterone 17-beta-dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn error of pyruvate metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
3 beta-Hydroxysteroid dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Essential benign pentosuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Intestinal enteropeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Moderate steroid 21-hydroxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Metabolic disease of collagen Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Trehalase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of pyrimidine metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Defect in post-translational modification of lysosomal enzymes Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Enterokinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Trypsinogen deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Unclassified metabolic disorder Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Amino acid/carbohydrate metabolic disorder Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Other amino acid/carbohydrate metabolic disorder Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Kerasin thesaurismosis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inherited disorder of thyroid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn error of lipoprotein metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Pancreatic colipase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Wolman's disease Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Acetyl-CoA: acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Premature aging syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Disorder of creatine synthesis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of hydroxymethylglutaryl-CoA lyase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of histidine ammonia-lyase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Methylcrotonyl-coenzyme A carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Deficiency of proline dipeptidase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Albinism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Cystathionine beta-synthase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
5-Oxoprolinase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Glutamate-cysteine ligase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Glutathione synthase deficiency with 5-oxoprolinuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Sulfite oxidase deficiency syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Argininosuccinate lyase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn error of amino acid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hypervalinemia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Succinate-semialdehyde dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hyperammonemia, type III Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Hepatic methionine adenosyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Dihydropteridine reductase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Urocanate hydratase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Proline dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Congenital hyperammonemia, type I Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Ethanolaminosis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Sarcosine dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Aminomethyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Propionic acidemia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Inborn error of glutathione metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier
Familial renal iminoglycinuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier

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This concept is not in any reference sets

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