41283003: cerebro-oculofacioskeletaal syndroom (aandoening)

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

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

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

\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (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

6600331000146119 cerebro-oculofacioskeletaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600341000146110 CAMAK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600351000146113 COFS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600371000146117 CAMFAK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600391000146118 Pena-Shokeir-syndroom type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600401000146115 cerebro-oculofacioskeletaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6600411000146118 syndroom van Pena-Shokeir type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6747811000146118 syndroom van cataract, microcefalie, artrogrypose en kyfose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6747821000146111 syndroom van cataract, microcefalie, groeifalen en kyfoscoliose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core 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)	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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets