21086008: Cockayne syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Cockayne syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cockayne syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Cockayne syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\trouble du développement\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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cockayne syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Cockayne syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Cockayne syndrome	est un(e) (attribut)	Multiple malformation syndrome with senile-like appearance	true	Inferred relationship	Some
Cockayne syndrome	est un(e) (attribut)	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Cockayne syndrome	est un(e) (attribut)	Congenital anomaly of nervous system	false	Inferred relationship	Some
Cockayne syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
Cockayne syndrome	est un(e) (attribut)	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Cockayne syndrome	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Cockayne syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
Cockayne syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cockayne syndrome	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Cockayne syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Cockayne syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Cockayne syndrome	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Cockayne syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cockayne syndrome	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Cockayne syndrome	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Cockayne syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
213719011	Dwarfism-retinal atrophy-deafness syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
404721000241112	syndrome de Cockayne (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750341017	Cockayne syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
976331000172118	syndrome de Cockayne	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)