698851003: SOX2 anophthalmia syndrome (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\SOX2 anophthalmia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\SOX2 anophthalmia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\SOX2 anophthalmia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\SOX2 anophthalmia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\SOX2 anophthalmia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome

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
SOX2 anophthalmia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
SOX2 anophthalmia syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
SOX2 anophthalmia syndrome	Is a	Anophthalmos	false	Inferred relationship	Some
SOX2 anophthalmia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
SOX2 anophthalmia syndrome	Finding site	Structure of orbit proper	false	Inferred relationship	Some
SOX2 anophthalmia syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	3
SOX2 anophthalmia syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
SOX2 anophthalmia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
SOX2 anophthalmia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
SOX2 anophthalmia syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
SOX2 anophthalmia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
SOX2 anophthalmia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2981433013	AEG - anophthalmia-esophageal-genital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2981457013	SOX2 anophthalmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2981469017	Syndromic microphthalmia 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2981470016	Anophthalmia-esophageal-genital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2981482013	SOX2 anophthalmia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2981485010	SOX2-related eye disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core