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717915004: Blepharoptosis, myopia, ectopia lentis 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
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
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
3887821000052114 syndrom med blefaroptos, myopi och linsektopi 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
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Associated morphology kongenital prolaps false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Finding site Upper eyelid structure false Inferred relationship Some 3
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Severe myopia true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Congenital ectopic lens true Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Associated morphology Congenital ectopia (morphologic abnormality) true Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Occurrence Congenital 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) Finding site Upper eyelid structure true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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