720467005: Aniridia and absent patella syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Finding of patella structure\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of knee region\Finding of patella structure\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Aniridia and absent patella syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Finding of patella structure\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of joint region\Disorder of knee (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aniridia and absent patella syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Disorder of patella (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Aniridia and absent patella syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320940014	Aniridia and absent patella syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402349019	A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402350019	A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterised by the association of aniridia with 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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