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41283003: 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
5681081000172117 syndrome cérébro-oculo-facio-squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4830141000172111 Pena-Shokeir-syndroom type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4830151000172113 CAMFAK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4830161000172110 syndroom van cataract, microcefalie, artrogrypose en kyfose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4830171000172118 COFS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4830181000172115 syndroom van cataract, microcefalie, groeifalen en kyfoscoliose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4830191000172117 syndroom van Pena-Shokeir type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4830201000172119 cerebro-oculofacioskeletaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4830211000172116 CAMAK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

0 descendants.

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 Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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