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392461003: Congenital ectopic pupil (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1466642011 Congenital ectopic pupil (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1486440017 Congenital ectopic pupil en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5894111000241111 pupille ectopique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5894121000241116 ectopie congénitale de la pupille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5894131000241119 ectopie pupillaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
522951000274110 Kongenitale ektopische Pupille de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital ectopic pupil (disorder) Associated morphology Malposition false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Associated morphology Congenital ectopia (morphologic abnormality) false Inferred relationship Some 1
Congenital ectopic pupil (disorder) Is a Ectopic pupil true Inferred relationship Some
Congenital ectopic pupil (disorder) Is a Congenital anomaly of eye false Inferred relationship Some
Congenital ectopic pupil (disorder) Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital ectopic pupil (disorder) Occurrence Congenital false Inferred relationship Some
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 1
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Finding site Iris structure (body structure) false Inferred relationship Some
Congenital ectopic pupil (disorder) Finding site Uveal tract structure false Inferred relationship Some
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Is a Congenital malformation false Inferred relationship Some
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 1
Congenital ectopic pupil (disorder) Is a Congenital anomaly of eye false Inferred relationship Some
Congenital ectopic pupil (disorder) Associated morphology Congenital ectopia (morphologic abnormality) false Inferred relationship Some 1
Congenital ectopic pupil (disorder) Associated morphology Congenital ectopia (morphologic abnormality) true Inferred relationship Some 1
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) true Inferred relationship Some 1
Congenital ectopic pupil (disorder) Is a Congenital anomaly of pupil true Inferred relationship Some
Congenital ectopic pupil (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Associated morphology Congenital ectopia (morphologic abnormality) false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 2
Congenital ectopic pupil (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital ectopic pupil (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. Is a True Congenital ectopic pupil (disorder) Inferred relationship Some

Reference Sets

GB English

US English

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