238067002: Peroxisomal thiolase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Peroxisomal thiolase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Peroxisomal thiolase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Peroxisomal thiolase deficiency

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

356849011 Peroxisomal thiolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356850011 Pseudo-Zellweger syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356851010 3-Ketoacyl-CoA thiolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626899016 Peroxisomal thiolase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Peroxisomal thiolase deficiency	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Peroxisomal thiolase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Peroxisomal thiolase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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This concept is not in any reference sets