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722437006: Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3332070016 Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332071017 Ectopia lentis, chorioretinal dystrophy, myopia syndrome en Synonym Active Case insensitive SNOMED CT core
3332073019 This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core
3332074013 This syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalised tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Congenital anomaly of posterior segment of eye false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence Congenital true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Choroidal and/or retinal structures false Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology Dystrophy true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Retinal dystrophy true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Retinal structure true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Congenital chorioretinal degeneration true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology Dystrophy true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Choroidal structure true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Degenerative disorder of eye false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Congenital subluxation of lens true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Chorioretinal disorder false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology Dystrophy false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence Congenital true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Choroidal and/or retinal structures false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology Congenital ectopia false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence Congenital true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Structure of lens of eye false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology Congenital ectopia true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Finding site Structure of lens of eye true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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