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733087007: Polydactyly myopia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3498720018 Polydactyly myopia syndrome en Synonym Active Case insensitive SNOMED CT core
3498721019 Czeizel Brooser syndrome en Synonym Active Case sensitive SNOMED CT core
3499966014 An exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome has clinical characteristics of four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Polydactyly myopia syndrome Finding site Structure of visual system true Inferred relationship Some 1
Polydactyly myopia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Polydactyly myopia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Polydactyly myopia syndrome Occurrence Congenital true Inferred relationship Some 1
Polydactyly myopia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Polydactyly myopia syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Polydactyly myopia syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Polydactyly myopia syndrome Is a Myopia true Inferred relationship Some
Polydactyly myopia syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Polydactyly myopia syndrome Is a Polydactyly true Inferred relationship Some
Polydactyly myopia syndrome Associated morphology Supernumerary structure true Inferred relationship Some 2
Polydactyly myopia syndrome Occurrence Congenital true Inferred relationship Some 2
Polydactyly myopia syndrome Finding site Digit structure true Inferred relationship Some 2
Polydactyly myopia syndrome Occurrence Congenital false Inferred relationship Some 3
Polydactyly myopia syndrome Finding site Structure of visual system false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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