FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

21086008: Cockayne syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

213719011 Dwarfism-retinal atrophy-deafness syndrome en Synonym Inactive Initial character case insensitive SNOMED CT core
35440018 Cockayne syndrome en Synonym Active Case sensitive SNOMED CT core
35441019 Cokayne syndrome en Synonym Inactive Initial character case insensitive SNOMED CT core
750341017 Cockayne syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cockayne syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cockayne syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
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	false	Inferred relationship	Some
Cockayne syndrome	Is a	Congenital anomaly of nervous system	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	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 neoplastic syndrome	true	Inferred relationship	Some
Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Cockayne syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Cockayne syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	2
Cockayne syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cockayne syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	1
Cockayne syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	1
Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
Xeroderma pigmentosum and Cockayne syndrome complex	Is a	True	Cockayne syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
213719011	Dwarfism-retinal atrophy-deafness syndrome	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
35440018	Cockayne syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
35441019	Cokayne syndrome	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
750341017	Cockayne syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core