238060000: General loss of peroxisomal function (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\General loss of peroxisomal function

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

356842019 General loss of peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626891018 General loss of peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6302111000241115 perte générale de la fonction peroxysomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6302121000241110 perte générale de la fonction des peroxysomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
General loss of peroxisomal function	Is a	Disorder of peroxisomal function	true	Inferred relationship	Some
General loss of peroxisomal function	Finding site	Body system structure	false	Inferred relationship	Some
General loss of peroxisomal function	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal adrenoleukodystrophy	Is a	False	General loss of peroxisomal function	Inferred relationship	Some
Infantile Refsum's disease	Is a	False	General loss of peroxisomal function	Inferred relationship	Some
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.	Is a	True	General loss of peroxisomal function	Inferred relationship	Some

This concept is not in any reference sets