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720467005: 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
3320939012 Aniridia and absent patella syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Entire term case sensitive (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
3383781001000118 Aniridie-Patellaaplasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911151000172111 syndrome d'aniridie-rotule absente fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911151000172111 syndrome d'aniridie-rotule absente fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383781001000118 Aniridie-Patellaaplasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aniridia and absent patella syndrome Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Congenital aniridia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Congenital anomaly of lower limb false Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia and absent patella syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia and absent patella syndrome Finding site Bone structure of patella false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia and absent patella syndrome Finding site Bone structure of patella true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Is a Disorder of patella (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia and absent patella syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia and absent patella syndrome Finding site Iris structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia and absent patella syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and absent patella syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia and absent patella syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a Congenital anomaly of patella (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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