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21086008: Cockayne syndrome (disorder)

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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\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)\Hereditary disorder of nervous system\Cockayne syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central 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:

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

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 Switzerland NRC maintained Module

3419431001000118 Cockayne-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie du développement	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	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/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome.	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type.	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood.	Is a	True	Cockayne syndrome	Inferred relationship	Some
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth.	Is a	True	Cockayne syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
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 Switzerland NRC maintained Module
3419431001000118	Cockayne-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module