725168006: Aland Islands eye disease (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disorder of head\Disorder of eye region\Disorder of eye\...
• \Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Aland Islands eye disease
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aland Islands eye disease

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3440664017	Aland Islands eye disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3440665016	Aland Islands eye disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3440666015	Forsius Eriksson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3440667012	Forsius Eriksson type ocular albinism	en	Synonym	Active	Case sensitive	SNOMED CT core
3440668019	An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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