720987001: Aniridia, ptosis, intellectual disability, familial obesity syndrome (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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome

\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome
\Disease\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\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\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\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\Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Aniridia, ptosis, intellectual disability, familial obesity syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322793012 Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322794018 Aniridia, ptosis, intellectual disability, familial obesity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	Congenital aniridia	true	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	1
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Finding site	Iris structure	true	Inferred relationship	Existential restriction modifier	1
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	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
3322793012	Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322794018	Aniridia, ptosis, intellectual disability, familial obesity syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module