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

733087007: Polydactyly myopia syndrome (disorder)


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
3498719012 Polydactyly myopia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498720018 Polydactyly myopia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498721019 Czeizel Brooser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403728014 Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403729018 Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterised clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. 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
Polydactyly myopia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Polydactyly myopia syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Polydactyly myopia syndrome (disorder) Is a Myopia true Inferred relationship Some
Polydactyly myopia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Polydactyly myopia syndrome (disorder) Is a Polydactyly (disorder) true Inferred relationship Some
Polydactyly myopia syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 2
Polydactyly myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Polydactyly myopia syndrome (disorder) Finding site Digit structure true Inferred relationship Some 2
Polydactyly myopia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Polydactyly myopia syndrome (disorder) Finding site Structure of visual system (body structure) false Inferred relationship Some 3
Polydactyly myopia syndrome (disorder) Finding site Structure of visual system (body structure) true Inferred relationship Some 1
Polydactyly myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Polydactyly myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Polydactyly myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Polydactyly myopia 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