FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) est un(e) (attribut) Congenital anomaly of posterior segment of eye false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) survenue (attribut) congénital 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) localisation d'une constatation (attribut) Choroidal and/or retinal structures (body structure) false Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Retinal dystrophy true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Congenital chorioretinal degeneration true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) localisation d'une constatation (attribut) structure de la choroïde true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) affection dégénérative de l'œil false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Congenital ectopic lens true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Chorioretinal disorder (disorder) false Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) localisation d'une constatation (attribut) Choroidal and/or retinal structures (body structure) false Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) Congenital ectopia (morphologic abnormality) false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 3
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) Congenital ectopia (morphologic abnormality) true Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start