10007009: Coffin-Siris-syndroom (aandoening)

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

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

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

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

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

\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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coffin-Siris syndrome
\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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\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
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris 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
Coffin-Siris syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Coffin-Siris syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Coffin-Siris syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Coffin-Siris syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Coffin-Siris syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Coffin-Siris syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Coffin-Siris syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Coffin-Siris syndrome 1 (disorder)	Is a	True	Coffin-Siris syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
17479015	Coffin-Siris syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
514806019	Coffin-Siris syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6604761000146116	Coffin-Siris-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6604771000146110	syndroom van Coffin-Siris	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6604781000146112	CSS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663051000146111	Coffin-Siris-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13080081000146117	CSS; aangeboren afwijking, veroorzaakt verstandelijke beperking en ook vaak problemen met de luchtwegen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)