715771008: Microphthalmos co-occurrent with congenital ocular coloboma (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\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia

Status: current, Defined. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303665016 Microphthalmos co-occurrent with congenital ocular coloboma (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3303666015 Colobomatous microphthalmia en Synonym Active Case insensitive SNOMED CT core

3303667012 Microphthalmos co-occurrent with congenital ocular coloboma en Synonym Active Case insensitive SNOMED CT core

3303668019 Microphthalmia with colobomatous cyst en Synonym Active Case insensitive SNOMED CT core

3303669010 A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Colobomatous microphthalmia	Is a	Microphthalmos	true	Inferred relationship	Some
Colobomatous microphthalmia	Is a	Coloboma of eye	true	Inferred relationship	Some
Colobomatous microphthalmia	Occurrence	Congenital	false	Inferred relationship	Some	4
Colobomatous microphthalmia	Finding site	Eye structure	false	Inferred relationship	Some	5
Colobomatous microphthalmia	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	4
Colobomatous microphthalmia	Finding site	Eye structure	false	Inferred relationship	Some	4
Colobomatous microphthalmia	Occurrence	Congenital	false	Inferred relationship	Some	3
Colobomatous microphthalmia	Associated morphology	Defect	false	Inferred relationship	Some	5
Colobomatous microphthalmia	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Colobomatous microphthalmia	Finding site	Entire eye	false	Inferred relationship	Some	3
Colobomatous microphthalmia	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Colobomatous microphthalmia	Occurrence	Congenital	true	Inferred relationship	Some	1
Colobomatous microphthalmia	Finding site	Eye structure	true	Inferred relationship	Some	1
Colobomatous microphthalmia	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Colobomatous microphthalmia	Occurrence	Congenital	true	Inferred relationship	Some	2
Colobomatous microphthalmia	Finding site	Entire eye	true	Inferred relationship	Some	2
Colobomatous microphthalmia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Colobomatous microphthalmia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	Is a	True	Colobomatous microphthalmia	Inferred relationship	Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Is a	True	Colobomatous microphthalmia	Inferred relationship	Some
Bilateral microphthalmos with congenital coloboma	Is a	True	Colobomatous microphthalmia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303665016	Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303666015	Colobomatous microphthalmia	en	Synonym	Active	Case insensitive	SNOMED CT core
3303667012	Microphthalmos co-occurrent with congenital ocular coloboma	en	Synonym	Active	Case insensitive	SNOMED CT core
3303668019	Microphthalmia with colobomatous cyst	en	Synonym	Active	Case insensitive	SNOMED CT core
3303669010	A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma.	en	Definition	Active	Case sensitive	SNOMED CT core