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

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

\Disorder of foetus and/or newborn\Congenital disease (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)

\Congenital anomaly of nervous system\Cerebro-oculo-facio-skeletal syndrome (disorder)

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

\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)

\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

68857019 Cerebro-oculo-facio-skeletal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

68858012 COFS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

778054016 Cerebro-oculo-facio-skeletal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1229741012 CAMAK - Cerebro-oculo-facio-skeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229742017 CAMFAK - Cerebro-oculo-facio-skeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229743010 COFS - Cerebro-oculo-facio-skeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3903050010 Pena-Shokeir syndrome type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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)	Finding site	Brain structure	false	Inferred relationship	Some	1
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	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	false	Inferred relationship	Some	2
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Cerebro-oculo-facio-skeletal syndrome (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
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

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets