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\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Syndromic microphthalmia type 5
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Syndromic microphthalmia type 5
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic microphthalmia type 5
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Syndromic microphthalmia type 5
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Syndromic microphthalmia type 5
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Syndromic microphthalmia type 5
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Developmental disorder\Developmental hereditary disorder\Syndromic microphthalmia type 5
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia type 5

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3313767014	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
3313768016	Syndromic microphthalmia type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3313769012	Syndromic microphthalmia due to OTX2 mutation	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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