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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
68857019 Cerebro-oculo-facio-skeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (core metadata concept) SNOMED CT core
778054016 Cerebro-oculo-facio-skeletal syndrome (disorder) en Fully specified name 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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (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
3384341001000111 COFS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4524741000241112 syndrome cérébro-oculo-facio-squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4524741000241112 syndrome cérébro-oculo-facio-squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384341001000111 COFS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebro-oculo-facio-skeletal syndrome Is a Multisystem disorder C-D (navigational concept) false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a Congenital anomaly of nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a Congenital anomaly of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-oculo-facio-skeletal syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-oculo-facio-skeletal syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-oculo-facio-skeletal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-oculo-facio-skeletal syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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