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722437006: Ectopia lentis, chorioretinal dystrophy, myopia 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
3332070016 Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332071017 Ectopia lentis, chorioretinal dystrophy, myopia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3897091000052118 syndrom med medfödd ektopisk lins, korioretinal dystrofi och myopi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Degenerative disorder of eye false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital ectopic lens true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Chorioretinal disorder (disorder) false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site åderhinna och/eller näthinna, struktur false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Congenital ectopia (morphologic abnormality) false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Lens clear false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Congenital ectopia (morphologic abnormality) true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital anomaly of posterior segment of eye false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site åderhinna och/eller näthinna, struktur false Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Retinal dystrophy true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital chorioretinal degeneration true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Choroidal structure true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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