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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
142765013 Inborn error of metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (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
828286015 Inborn error of metabolism (disorder) en Fully specified name Active Only initial character 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 Only initial character 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 Only initial character case insensitive (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
161091000077112 erreur innée du métabolisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
161091000077112 erreur innée du métabolisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Metabolic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inborn error of metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Hereditary metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Progeria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hypophosphatasia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of amino acid and organic acid metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of purine and pyrimidine metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of glycosaminoglycan metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of glycoprotein metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of sialic acid metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of porphyrin and hem metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of peroxisomal function Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder) Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperlipoproteinemia, type I Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary methemoglobinemia, enzymatic type Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Severe steroid 21-hydroxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Primary hyperoxaluria (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Fructose-biphosphatase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxine dependency syndrome Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of porphyrin metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Acetyl-CoA: acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Storage disease Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of fatty acid metabolism (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to hexokinase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of folate metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Corticosterone 18-monooxygenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lipoprotein AND/OR lipid metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
17 alpha-Hydroxyprogesterone aldolase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Testosterone 17-beta-dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of pyruvate metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
3 beta-Hydroxysteroid dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Essential benign pentosuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal enteropeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to phosphoglycerate kinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Moderate steroid 21-hydroxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Muscle phosphoglycerate mutase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
X-linked ichthyosis with steryl-sulphatase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic disease of collagen Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Trehalase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of pyrimidine metabolism Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Defect in post-translational modification of lysosomal enzymes Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Enterokinase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Trypsinogen deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Unclassified metabolic disorder Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid/carbohydrate metabolic disorder (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Other amino acid/carbohydrate metabolic disorder Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Kerasin thesaurismosis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of thyroid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of lipoprotein metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic colipase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Wolman's disease Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Acetyl-CoA: acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Premature aging syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Arthrochalasia Ehlers-Danlos syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of creatine synthesis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of histidine ammonia-lyase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Methylcrotonyl-CoA carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
déficit en proline dipeptidase Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Cystathionine beta-synthase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
5-Oxoprolinase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glutamate-cysteine ligase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Argininosuccinate lyase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of amino acid metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hypervalinemia (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait. Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemia, type III Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic methionine adenosyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Dihydropteridine reductase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Urocanate hydratase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Proline dehydrogenase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperammonemia, type I Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glycine dehydrogenase (decarboxylating) deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
éthanolaminose Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Sarcosine dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Aminomethyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Propionic acidemia (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of glutathione metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal iminoglycinuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)

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