773576000: Progressive retinal dystrophy due to retinol transport defect (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\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect

\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\Progressive retinal dystrophy due to retinol transport defect

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive retinal dystrophy due to retinol transport defect
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\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\Progressive retinal dystrophy due to retinol transport defect
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive retinal dystrophy due to retinol transport defect
\Disease\Metabolic disease\Metabolic disorder of transport\Progressive retinal dystrophy due to retinol transport defect
\Disease\Chronic disease\Chronic metabolic disorder\Progressive retinal dystrophy due to retinol transport defect

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724259015 Retinol dystrophy, iris coloboma, comedogenic acne syndrome en Synonym Active Case insensitive SNOMED CT core

3724260013 Progressive retinal dystrophy due to retinol transport defect (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3724261012 Progressive retinal dystrophy due to retinol transport defect en Synonym Active Case insensitive SNOMED CT core

3724262017 A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. en Definition Active Case sensitive SNOMED CT core

3724263010 A rare genetic metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive retinal dystrophy due to retinol transport defect	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect	Finding site	Retinal structure	true	Inferred relationship	Some	1
Progressive retinal dystrophy due to retinol transport defect	Clinical course	Progressive	true	Inferred relationship	Some	2
Progressive retinal dystrophy due to retinol transport defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect	Is a	Metabolic disorder of transport	true	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Progressive retinal dystrophy due to retinol transport defect	Is a	Chronic metabolic disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3724259015	Retinol dystrophy, iris coloboma, comedogenic acne syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724260013	Progressive retinal dystrophy due to retinol transport defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724261012	Progressive retinal dystrophy due to retinol transport defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3724262017	A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23.	en	Definition	Active	Case sensitive	SNOMED CT core
3724263010	A rare genetic metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23.	en	Definition	Active	Case sensitive	SNOMED CT core