699381006: Oculoskeletal dysplasia (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.

\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier (core metadata concept)
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2984067012	OSD - Ocular skeletal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2984302011	Oculoskeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2984339012	Ocular skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2984362014	Oculoskeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988814018	An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2984067012	OSD - Ocular skeletal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2984302011	Oculoskeletal dysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2984302011	Oculoskeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2984339012	Ocular skeletal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2984339012	Ocular skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2984362014	Oculoskeletal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2984362014	Oculoskeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988814018	An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
516091000274113	OSD - Okulo-skelettale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
558281000274114	Okulo-skelettale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
516091000274113	OSD - Okulo-skelettale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
558281000274114	Okulo-skelettale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module