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718718009: X-linked cone dysfunction syndrome with myopia (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
3313325015 Bornholm eye disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313327011 X-linked cone dysfunction syndrome with myopia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313328018 X-linked cone dysfunction syndrome with myopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401833014 X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401834015 X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313325015 Bornholm eye disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313327011 X-linked cone dysfunction syndrome with myopia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313328018 X-linked cone dysfunction syndrome with myopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313326019 Syndrome with characteristics of moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401833014 X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401834015 X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
525491000274118 X-chromosomales Zapfendystrophie-Myopie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440171001000114 Zapfendystrophie-Myopie-Syndrom, X-chromosomales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894651000172113 maladie des yeux type Bornholm fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902371000172111 syndrome d'anomalie des cônes avec myopie lié à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894651000172113 maladie des yeux type Bornholm fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902371000172111 syndrome d'anomalie des cônes avec myopie lié à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
525491000274118 X-chromosomales Zapfendystrophie-Myopie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440171001000114 Zapfendystrophie-Myopie-Syndrom, X-chromosomales 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
X-linked cone dysfunction syndrome with myopia (disorder) Is a Myopia true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (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
X-linked cone dysfunction syndrome with myopia (disorder) Is a X-linked recessive hereditary disease 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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