1003372008: Microphthalmos due to branchio-oculo-facial syndrome (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\Microphthalmos due to branchio-oculo-facial syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\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\Microphthalmos due to branchio-oculo-facial syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\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\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmos due to branchio-oculo-facial syndrome	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	Entire eye	true	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Due to	Branchiooculofacial syndrome	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4168101011	Microphthalmos due to branchio-oculo-facial syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4168102016	Microphthalmos due to branchio-oculo-facial syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5103971000172115	microftalmie door BOFS	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5103981000172117	microftalmie door branchio-oculofaciaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)