718761007: Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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 (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 body system\Hereditary disorder by system\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
\Disease\Developmental 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\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

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

3905051000052111 syndrom med mikroftalmi, typ 5 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Finding site	Entire eye	true	Inferred relationship	Some	1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
3905051000052111	syndrom med mikroftalmi, typ 5	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)