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718763005: Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3313774016 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313775015 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313776019 Spondyloepiphyseal dysplasia MacDermot type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401859012 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401860019 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterised by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313774016 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313774016 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313775015 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313775015 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313776019 Spondyloepiphyseal dysplasia MacDermot type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313777011 Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401859012 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401860019 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterised by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
601371000274111 Syndrom mit spondyloepiphysärer Dysplasie, Myopie und sensorineuralem Hörverlust de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601381000274113 Spondyloepiphysäre Dysplasie Typ MacDermoty de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601371000274111 Syndrom mit spondyloepiphysärer Dysplasie, Myopie und sensorineuralem Hörverlust de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601381000274113 Spondyloepiphysäre Dysplasie Typ MacDermoty de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454621001000114 Dysplasie, spondyloepiphysäre, Typ MacDermot 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
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Myopia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Spondyloepiphyseal dysplasia congenita group (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness 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) 3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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