1003372008: Microphthalmos due to branchio-oculo-facial syndrome (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\Microphthalmos due to branchio-oculo-facial syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Head finding (finding)\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 (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\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 of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Anomaly of eye\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\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to branchio-oculo-facial syndrome
\Disease\Developmental disorder (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	Existential restriction modifier (core metadata concept)
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	œil entier	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Due to	Branchiooculofacial syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	Entire eye proper	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
511371000274117	Mikrophthalmus verursacht durch Lee-Root-Fenske-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
591171000274116	Mikrophthalmus verursacht durch Branchio-okulo-faziales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
511371000274117	Mikrophthalmus verursacht durch Lee-Root-Fenske-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
591171000274116	Mikrophthalmus verursacht durch Branchio-okulo-faziales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module