FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
CK syndrome est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Lipoyl transferase 1 deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Congenital muscular dystrophy without intellectual disability (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Dyshormonogenic goitre est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
défaut de synthèse des acides biliaires est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Multiple carboxylase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of galactose mutarotase est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Phenylketonuria (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Inherited metabolic disorder of nervous system est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Kerasin thesaurismosis est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inherited disorder of thyroid metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inborn error of lipoprotein metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Pancreatic colipase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Wolman's disease est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Severe steroid 21-hydroxylase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Primary hyperoxaluria est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Progeria syndrome est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Hypophosphatasia est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Fructose-biphosphatase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Pyridoxine dependency syndrome est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Disorder of porphyrin metabolism est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Storage disease est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Disorder of fatty acid metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Premature aging syndrome (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inherited disorder of folate metabolism (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Corticosterone 18-monooxygenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
troubles du métabolisme des lipoprotéines et/ou des lipides est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of acetyl-coenzyme A carboxylase (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Inborn error of pyruvate metabolism (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Essential benign pentosuria (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Intestinal enteropeptidase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
HNSHA due to phosphoglycerate kinase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Muscle phosphoglycerate mutase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Cytochrome-c oxidase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Metabolic disease of collagen est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Disorder of creatine synthesis est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of histidine ammonia-lyase est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Deficiency of proline dipeptidase est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Albinism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Cystathionine beta-synthase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
déficit en 5-oxoprolinase (trouble) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
cétoacidurie à chaines ramifiées est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
déficit en glutamate-cystéine ligase (trouble) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Sulphite oxidase deficiency syndrome est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Argininosuccinate lyase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inborn error of amino acid metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hypervalinaemia est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Tyrosinaemia type 2 est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hyperammonaemia, type III est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
déficit en dihydroptéridine réductase (trouble) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Urocanate hydratase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Proline dehydrogenase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Congenital hyperammonemia, type I est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Ethanolaminosis est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Sarcosine dehydrogenase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Aminomethyltransferase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Propionic acidemia est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inborn error of glutathione metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
iminoglycinurie rénale familiale est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Classical phenylketonuria est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency (disorder) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Ornithine carbamoyltransferase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Biotinidase deficiency est un(e) (attribut) False Inborn error of metabolism Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Inherited disorder of bilirubin metabolism est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some
Porphobilinogen synthase deficiency est un(e) (attribut) True Inborn error of metabolism Inferred relationship Some

Page 1 of 2 End

This concept is not in any reference sets

Back to Start