88469006: Zellweger syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome
• \Developmental hereditary disorder\Zellweger syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Zellweger syndrome
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger syndrome
• \Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome
• \Developmental disorder\Developmental hereditary disorder\Zellweger syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1217059010	Hyperpipecolic acidaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1218547015	Hyperpipecolic acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1235347013	Zellweger's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
146682017	Zellweger syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
146683010	Cerebrohepatorenal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
831158015	Zellweger syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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