FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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
5401635017 A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401636016 A rare, genetic, lens position anomaly disease characterised by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. 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) 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 Congenital prolapse 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

Reference Sets

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

Back to Start