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10007009: Coffin-Siris syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Coffin-Siris syndrome

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Coffin-Siris syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Coffin-Siris syndrome

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

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

17479015 Coffin-Siris syndrome en Synonym Active Case sensitive SNOMED CT core

514806019 Coffin-Siris syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coffin-Siris syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Coffin-Siris syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
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	false	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
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
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Associated morphology	Developmental abnormality	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
17479015	Coffin-Siris syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
514806019	Coffin-Siris syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core