720467005: Aniridia and absent patella syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Aniridia and absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Aniridia and absent patella 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 absent patella syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome

\Disease\Disorder of joint region\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia and absent patella syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aniridia and absent patella syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aniridia and absent patella syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Aniridia and absent patella syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Aniridia and absent patella 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 absent patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella 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 absent patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aniridia and absent patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella 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 absent patella 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 absent patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aniridia and absent patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aniridia and absent patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella 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 absent patella 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 absent patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Aniridia and absent patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Aniridia and absent patella syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3320939012 Aniridia and absent patella syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320940014 Aniridia and absent patella syndrome en Synonym Active Case insensitive SNOMED CT core

3320941013 A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aniridia and absent patella syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aniridia and absent patella syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aniridia and absent patella syndrome	Finding site	Iris structure	true	Inferred relationship	Some	1
Aniridia and absent patella syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Aniridia and absent patella syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Congenital anomaly of patella	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Congenital aniridia	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Aniridia and absent patella syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Finding site	Iris structure	false	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Aniridia and absent patella syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Aniridia and absent patella syndrome	Finding site	Bone structure of patella	false	Inferred relationship	Some	3
Aniridia and absent patella syndrome	Finding site	Bone structure of patella	true	Inferred relationship	Some	2
Aniridia and absent patella syndrome	Is a	Disorder of patella	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3320939012	Aniridia and absent patella syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320940014	Aniridia and absent patella syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320941013	A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	en	Definition	Active	Case sensitive	SNOMED CT core