86095007: Inborn error of metabolism (disorder)

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

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

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism

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

Status: current. Date: 31-Jan 2002

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
142766014 Inborn error of metabolism, NOS en Synonym (core metadata concept) Inactive 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 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inborn error of metabolism	Is a	Hereditary metabolic disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Inborn error of metabolism	Is a	Congenital disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Inborn error of metabolism	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient.	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Inherited disorder of bilirubin metabolism	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Disorder of mitochondrial respiratory chain complexes	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Storage disease	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Synthetic defect of bile acids	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Disorder of peroxisomal function	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Disorder of glycoprotein metabolism	Is a	True	Inborn error of metabolism	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets