10007009: Coffin-Siris syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

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

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

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

\Disease\Disorder of body system\Disorder of nervous system\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 of the central 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 of the central nervous system\Disorder of brain\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\Disorder of brain\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital malformation syndrome\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

17479015 Coffin-Siris syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

514806019 Coffin-Siris syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coffin-Siris syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Is a	Multisystem disorder C-D	false	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Coffin-Siris syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Coffin-Siris syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Coffin-Siris syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Coffin-Siris syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Coffin-Siris syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Coffin-Siris syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
17479015	Coffin-Siris syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
514806019	Coffin-Siris syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module