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

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

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 (core metadata concept)	SNOMED CT core
3313767014	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313768016	Syndromic microphthalmia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313769012	Syndromic microphthalmia due to OTX2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401857014	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401858016	Syndromic microphthalmia, type 5 is characterised by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313766017	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313766017	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313767014	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313767014	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313768016	Syndromic microphthalmia type 5	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313768016	Syndromic microphthalmia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313769012	Syndromic microphthalmia due to OTX2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313770013	The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401857014	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401858016	Syndromic microphthalmia, type 5 is characterised by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
601361000274115	Syndromale Mikrophthalmie durch OTX2-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413941001000118	Syndromale Mikrophthalmie Typ 5	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
601361000274115	Syndromale Mikrophthalmie durch OTX2-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413941001000118	Syndromale Mikrophthalmie Typ 5	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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