31851000146107: Coffin-Siris-syndroom type 1 (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)

\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\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\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\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome\Coffin-Siris syndrome 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coffin-Siris syndrome 1 (disorder)	Is a	Coffin-Siris syndrome	true	Inferred relationship	Some
Coffin-Siris syndrome 1 (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Coffin-Siris syndrome 1 (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Coffin-Siris syndrome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Coffin-Siris syndrome 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Coffin-Siris syndrome 1 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Coffin-Siris syndrome 1 (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	2
Coffin-Siris syndrome 1 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Coffin-Siris syndrome 1 (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Coffin-Siris syndrome 1 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

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
602981000146118	Coffin-Siris syndrome 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
602991000146116	Coffin-Siris syndrome 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
603501000146110	CSS1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12849881000146117	Coffin-Siris-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12849901000146119	Coffin-Siris-syndroom type 1 (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)