21086008: Cockayne-syndroom (aandoening)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Cockayne syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cockayne syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cockayne syndrome	Is a	Multiple malformation syndrome with senile-like appearance	true	Inferred relationship	Some
Cockayne syndrome	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Cockayne syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Cockayne syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Cockayne syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Cockayne syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Cockayne syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Cockayne syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cockayne syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Cockayne syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Cockayne syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Cockayne syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cockayne syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Cockayne syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cockayne syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome type 3	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome type 1	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome type 2	Is a	True	Cockayne syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
35440018	Cockayne syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
35441019	Cokayne syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
213719011	Dwarfism-retinal atrophy-deafness syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750341017	Cockayne syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
342161000146113	syndroom van Cockayne	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
342171000146119	syndroom van Cockayne (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663001000146110	Cockayne-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663011000146112	Cockayne-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)