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86095007: Inborn error of metabolism (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

540 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 true Inferred relationship Some
Inborn error of metabolism Is a Metabolic disease true Inferred relationship Some
Inborn error of metabolism Occurrence Congenital true Inferred relationship Some
Inborn error of metabolism Finding site Body system structure false Inferred relationship Some
Inborn error of metabolism Is a Hereditary disease true Inferred relationship Some

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

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This concept is not in any reference sets

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