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41283003: Cerebro-oculo-facio-skeletal syndrome (disorder)

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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Cerebro-oculo-facio-skeletal syndrome (disorder)

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Cerebro-oculo-facio-skeletal syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Cerebro-oculo-facio-skeletal syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Cerebro-oculo-facio-skeletal syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Cerebro-oculo-facio-skeletal syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Cerebro-oculo-facio-skeletal syndrome (disorder)

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
68857019	Cerebro-oculo-facio-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	Anatomy structure and entire association reference set (foundation metadata concept): Entire retinaculum (body structure)
68858012	COFS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
778054016	Cerebro-oculo-facio-skeletal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1229741012	CAMAK - Cerebro-oculo-facio-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1229742017	CAMFAK - Cerebro-oculo-facio-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1229743010	COFS - Cerebro-oculo-facio-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3903050010	Pena-Shokeir syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebro-oculo-facio-skeletal syndrome (disorder)	Is a	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Structure of nervous system (body 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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