890434000: Cockayne-syndroom type 2 (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\Cockayne syndrome type 2

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Cockayne syndrome\Cockayne syndrome type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 2
\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\Cockayne syndrome type 2
\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\Cockayne syndrome type 2
\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\Cockayne syndrome type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
\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\Cockayne syndrome type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
\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\Cockayne syndrome type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Cockayne syndrome type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cockayne syndrome type 2	Is a	Cockayne syndrome	true	Inferred relationship	Some
Cockayne syndrome type 2	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Cockayne syndrome type 2	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cockayne syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Cockayne syndrome type 2	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4012561012	Cockayne syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4012562017	Cockayne syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4016113014	Early onset Cockayne syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12067651000146110	Cockayne-syndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12067661000146113	Cockayne-syndroom type 2 (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12067731000146113	syndroom van Cockayne type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4016114015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core