10007009: Coffin-Siris syndrome (disorder)

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

\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Coffin-Siris syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Coffin-Siris syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\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\Developmental mental 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:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
17479015	Coffin-Siris syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
514806019	Coffin-Siris syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

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	Mental retardation	false	Inferred relationship	Some
Coffin-Siris syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Coffin-Siris syndrome	Is a	Intellectual disability	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	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	true	Inferred relationship	Some	1
Coffin-Siris syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
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	Occurrence	Congenital	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Coffin-Siris syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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