86095007: Inborn error of metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	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
Inborn error of metabolism	Is a	Hereditary disease	false	Inferred relationship	Some
Inborn error of metabolism	Is a	Hereditary metabolic 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	False	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
hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Hyperlipoproteinemia, type I	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Hereditær methæmoglobinæmi, enzymatisk 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-mangel	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
Pyridoxinafhængighedssyndrom	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
Deficiency of acetyl-coenzyme A carboxylase (disorder)	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 virilizing 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
Essentiel benign pentosuri	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	False	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-sulphatase 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
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Is a	False	Inborn error of metabolism	Inferred relationship	Some
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	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Enterokinasemangel	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Trypsinogen deficiency	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Uklassificeret stofskifteforstyrrelse	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Amino acid/carbohydrate metabolic disorder	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Anden stofskifteforstyrrelse af aminosyre/kulhydrat	Is a	False	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
Phosphatidylcholin-sterol-acyltransferasemangel	Is a	False	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-CoA mutase	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Disorder of creatine synthesis	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Hydroxymetylglutaryl-CoA-lyasemangel	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Deficiency of histidine ammonia-lyase	Is a	True	Inborn error of metabolism	Inferred relationship	Some
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Prolindipeptidasemangel	Is a	False	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	False	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
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	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	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	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Kongenit hyperammonæmi, 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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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
2011691000005115	medfødt stofskiftefejl	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)