1003370000: microftalmie door syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Head finding (finding)\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 Fryns syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (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\Microphthalmos due to Fryns syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (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\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (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\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos due to Fryns syndrome (disorder)

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 Fryns syndrome (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmos due to Fryns syndrome (disorder)	Finding site	geheel oog (lichaamsstructuur)	false	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Due to	Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	true	Inferred relationship	Some	2
Microphthalmos due to Fryns syndrome (disorder)	Finding site	Entire eye proper	true	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4168097019	Microphthalmos due to Fryns syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4168098012	Microphthalmos due to Fryns syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12043501000146113	microftalmie door Fryns-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12328111000146112	microftalmie door syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12328121000146119	microftalmie door syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)