720468000: Aniridia and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Aniridia and intellectual disability syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\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\Aniridia and intellectual disability syndrome
\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\Aniridia and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\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\Aniridia and intellectual disability syndrome
\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\Aniridia and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Aniridia and intellectual disability syndrome
\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\Aniridia and intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Aniridia and intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Aniridia and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Aniridia and intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aniridia and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Aniridia and intellectual disability syndrome
\Disease\Disorder of body system\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\Aniridia and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Aniridia and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aniridia and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia and intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3320942018 Aniridia and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320943011 Aniridia and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3320944017 An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aniridia and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aniridia and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aniridia and intellectual disability syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Aniridia and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Aniridia and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Aniridia and intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Aniridia and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Aniridia and intellectual disability syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aniridia and intellectual disability syndrome	Is a	Congenital aniridia	true	Inferred relationship	Some
Aniridia and intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Aniridia and intellectual disability syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Aniridia and intellectual disability syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Aniridia and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aniridia and intellectual disability syndrome	Finding site	Iris structure	true	Inferred relationship	Some	1
Aniridia and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3320942018	Aniridia and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320943011	Aniridia and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320944017	An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.	en	Definition	Active	Case sensitive	SNOMED CT core