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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
5402933012 A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402934018 A rare, genetic, ophthalmic disorder characterised by the association of lens (ectopia and cataracts) and retinal (generalised tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332070016 Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402933012 A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402934018 A rare, genetic, ophthalmic disorder characterised by the association of lens (ectopia and cataracts) and retinal (generalised tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
532421000274110 Noble-Bass-Sherman-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393451001000119 Ectopia lentis-chorioretinale Dystrophie-Myopie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6085961000241113 syndrome d'ectopie du cristallin, dystrophie choriorétinienne et myopie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6085971000241117 syndrome de Noble-Bass-Sherman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6085961000241113 syndrome d'ectopie du cristallin, dystrophie choriorétinienne et myopie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6085971000241117 syndrome de Noble-Bass-Sherman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
532421000274110 Noble-Bass-Sherman-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393451001000119 Ectopia lentis-chorioretinale Dystrophie-Myopie-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
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Degenerative disorder of eye (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital ectopic lens (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Choroidal and chorioretinal disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Choroidal and/or retinal structures false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Congenital ectopia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Congenital ectopia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital anomaly of posterior segment of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Choroidal and/or retinal structures false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a Congenital chorioretinal degeneration (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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