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69278003: Congenital aniridia (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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital aniridia	Is a	Congenital anomaly of iris	true	Inferred relationship	Existential restriction modifier
Congenital aniridia	Finding site	Iris structure	true	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Finding site	Iridial and/or ciliary structure	false	Inferred relationship	Existential restriction modifier	3
Congenital aniridia	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier
Congenital aniridia	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital aniridia	Finding site	Iridial and/or ciliary structure	false	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Congenital aniridia	Is a	Agenesis of eye	false	Inferred relationship	Existential restriction modifier
Congenital aniridia	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Finding site	Iris structure	false	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital aniridia	Finding site	Iris structure	false	Inferred relationship	Existential restriction modifier	2
Congenital aniridia	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	2
Congenital aniridia	Is a	Congenital absence	false	Inferred relationship	Existential restriction modifier
Congenital aniridia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital aniridia	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Traumatic aniridia	Is a	False	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia type 1	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia type 2	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
11p partial monosomy syndrome	Is a	False	Congenital aniridia	Inferred relationship	Existential restriction modifier
Congenital anisocoria	Is a	False	Congenital aniridia	Inferred relationship	Existential restriction modifier
Traumatic aniridia	Is a	False	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia and absent patella syndrome	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia and intellectual disability syndrome	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Congenital aniridia of bilateral eyes	Is a	False	Congenital aniridia	Inferred relationship	Existential restriction modifier
Gillespie syndrome	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Congenital aniridia of right eye	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier
Congenital aniridia of left eye	Is a	True	Congenital aniridia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
115057018	Aniridia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
115058011	Irideremia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501243017	Agenesis of iris	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501244011	Congenital absence of iris	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501245012	Irideraemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1495404012	Aplasia of iris	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2572271010	Congenital aniridia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2576125014	Congenital aniridia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module