698851003: SOX2 anophthalmia syndrome (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\SOX2 anophthalmia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\SOX2 anophthalmia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\SOX2 anophthalmia syndrome (disorder)

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

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

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 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Is a	Anophthalmos	false	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
SOX2 anophthalmia syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
SOX2 anophthalmia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
SOX2 anophthalmia syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
SOX2 anophthalmia syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
SOX2 anophthalmia syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	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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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
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	Only initial character case insensitive (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	Only initial character 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
599771000274116	Syndromale Mikrophthalmie, Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
599781000274119	Syndrom mit Anophthalmie/Mikrophthalmie und Ösophagusatresie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383461001000116	Anophthalmie/Mikrophthalmie - Ösophagusatresie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
599771000274116	Syndromale Mikrophthalmie, Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
599781000274119	Syndrom mit Anophthalmie/Mikrophthalmie und Ösophagusatresie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383461001000116	Anophthalmie/Mikrophthalmie - Ösophagusatresie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module