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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
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
CK syndrome Is a True Inborn error of metabolism Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata Is a True Inborn error of metabolism Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a False Inborn error of metabolism Inferred relationship Some
Lipoyl transferase 1 deficiency Is a True Inborn error of metabolism Inferred relationship Some
Congenital muscular dystrophy without intellectual disability Is a True Inborn error of metabolism Inferred relationship Some
Dyshormonogenic goitre Is a True Inborn error of metabolism Inferred relationship Some
Synthetic defect of bile acids Is a True Inborn error of metabolism Inferred relationship Some
Multiple carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Deficiency of galactose mutarotase Is a True Inborn error of metabolism Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Inborn error of metabolism Inferred relationship Some
Heme oxygenase-1 deficiency Is a True Inborn error of metabolism Inferred relationship Some
Phenylketonuria Is a True Inborn error of metabolism Inferred relationship Some
Severe primary trimethylaminuria Is a True Inborn error of metabolism Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Inborn error of metabolism Inferred relationship Some
Chorea due to inborn error of metabolism Due to True Inborn error of metabolism Inferred relationship Some 2
Hereditary methaemoglobinaemia, 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
Kerasin thesaurismosis 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
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
Progeria syndrome Is a False Inborn error of metabolism Inferred relationship Some
Hypophosphatasia Is a True Inborn error of metabolism Inferred relationship Some
Fructose-1,6-bisphosphatase 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
Acetyl-CoA: acyltransferase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Premature ageing syndrome Is a True 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
HNSHA due to glutathione reductase deficiency 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 anaemia Is a True Inborn error of metabolism Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase 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
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
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
Hypervalinaemia Is a True Inborn error of metabolism Inferred relationship Some
Hypertyrosinaemia, 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
Hyperammonaemia, 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 Is a True Inborn error of metabolism Inferred relationship Some
HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency Is a False Inborn error of metabolism Inferred relationship Some
Congenital hyperammonaemia, 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 acidaemia 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
Classical phenylketonuria Is a False Inborn error of metabolism Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Ornithine carbamoyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Some
Biotinidase deficiency 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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