FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

726619004: syndroom van blefaroptose, strabismus en ectopische pupil (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3451026018 Ptosis, strabismus, ectopic pupil syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451027010 Ptosis, strabismus, ectopic pupil syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451028017 McPherson Hall syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6955831000146111 syndroom van blefaroptose, strabismus en ectopische pupil (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955851000146117 syndroom van blefaroptose, strabismus en ectopische pupil nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7003651000146117 syndroom van ptosis, strabismus en corectopie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3451029013 Syndrome with 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. 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
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital strabismus true Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital ectopic pupil (disorder) true Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Congenital ectopia (morphologic abnormality) true Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Pupil structure (body structure) true Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology congenitale ptosis (afwijkende morfologie) false Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Upper eyelid structure false Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Congenital ectopia (morphologic abnormality) false Inferred relationship Some 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Pupil structure (body structure) false Inferred relationship Some 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil 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

Back to Start