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717915004: syndrome de blépharoptosis-myopie-ectopie du cristallin (trouble)


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
3324394016 Blepharoptosis, myopia, ectopia lentis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324396019 Blepharoptosis, myopia, ectopia lentis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
751651000241110 syndrome de blépharoptosis-myopie-ectopie du cristallin (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
886201000172116 syndrome de blépharoptosis-myopie-ectopie du cristallin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3324397011 This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant. 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
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) morphologie associée (attribut) Prolapse true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Congenital ptosis of upper eyelid true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) morphologie associée (attribut) Congenital prolapse false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Severe myopia true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) Congenital ectopic lens true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) morphologie associée (attribut) Congenital ectopia (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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