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718718009: X-linked cone dysfunction syndrome with myopia (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313325015 Bornholm eye disease en Synonym Active Case sensitive SNOMED CT core
3313327011 X-linked cone dysfunction syndrome with myopia (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3313328018 X-linked cone dysfunction syndrome with myopia en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked cone dysfunction syndrome with myopia Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a Myopia true Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a X-linked hereditary disease false Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a Hereditary disorder of the visual system true Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Finding site Structure of visual system true Inferred relationship Some 1

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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