698851003: SOX2 anophthalmia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\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\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\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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 of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\SOX2 anophthalmia syndrome
\Disease\Congenital disease\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. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2981433013 AEG - anophthalmia-esophageal-genital syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

2981457013 SOX2 anophthalmia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

2981469017 Syndromic microphthalmia 3 en Synonym Active Entire term case insensitive SNOMED CT core module

2981470016 Anophthalmia-esophageal-genital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

2981482013 SOX2 anophthalmia syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2981485010 SOX2-related eye disorder en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SOX2 anophthalmia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Is a	Anophthalmos	false	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	3
SOX2 anophthalmia syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	3
SOX2 anophthalmia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
SOX2 anophthalmia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
SOX2 anophthalmia syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
SOX2 anophthalmia syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
SOX2 anophthalmia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
SOX2 anophthalmia syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	2
SOX2 anophthalmia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	2
SOX2 anophthalmia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
SOX2 anophthalmia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
SOX2 anophthalmia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
2981433013	AEG - anophthalmia-esophageal-genital syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2981457013	SOX2 anophthalmia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2981469017	Syndromic microphthalmia 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2981470016	Anophthalmia-esophageal-genital syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2981482013	SOX2 anophthalmia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2981485010	SOX2-related eye disorder	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module