88469006: Zellweger-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger syndrome

\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome

\Developmental disorder\Developmental hereditary disorder\Zellweger syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger syndrome

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

146682017 Zellweger syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

146683010 Cerebrohepatorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

831158015 Zellweger syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1217059010 Hyperpipecolic acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1218547015 Hyperpipecolic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235347013 Zellweger's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

93651000146119 syndroom van Zellweger nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2129901000146110 Zellweger-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2129911000146112 cerebrohepatorenaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10673081000146113 Zellweger-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7593361000146112 Dit is een stofwisselingsziekte die ernstige aandoeningen aan hersenen, lever en nieren tot gevolg heeft. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Zellweger syndrome	Is a	Multisystem disorder Y-Z	false	Inferred relationship	Some
Zellweger syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Zellweger syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Zellweger syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Zellweger syndrome	Is a	Storage disease	false	Inferred relationship	Some
Zellweger syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Zellweger syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Zellweger syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Zellweger syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Zellweger syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Zellweger syndrome	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some
Zellweger syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Zellweger syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Zellweger syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)