718761007: Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (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\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313766017	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3313767014	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3313768016	Syndromic microphthalmia type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3313769012	Syndromic microphthalmia due to OTX2 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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