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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
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
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 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
603041000274118 Czeizel-Brooser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603051000274115 Syndrom mit Polydaktylie und Myopie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6496281000241114 syndrome de Czeizel-Brooser fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6496301000241110 syndrome de polydactylie et myopie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6496281000241114 syndrome de Czeizel-Brooser fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6496301000241110 syndrome de polydactylie et myopie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603041000274118 Czeizel-Brooser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603051000274115 Syndrom mit Polydaktylie und Myopie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455361001000112 Polydaktylie - Myopie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a Myopia true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a Polydactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly myopia syndrome (disorder) Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly myopia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Polydactyly myopia syndrome (disorder) Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Existential restriction modifier (core metadata concept) 3
Polydactyly myopia syndrome (disorder) Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly myopia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly myopia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly myopia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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