773576000: progressieve retinale dystrofie door retinoltransportdefect (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Progressive retinal dystrophy due to retinol transport defect (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Progressive retinal dystrophy due to retinol transport defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724260013 Progressive retinal dystrophy due to retinol transport defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724261012 Progressive retinal dystrophy due to retinol transport defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7331861000146114 progressieve retinale dystrofie door retinoltransportdefect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7331871000146115 progressieve retinale dystrofie door transporteffect van vitamine A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7331881000146118 progressieve retinale dystrofie door retinoltransportdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724260013	Progressive retinal dystrophy due to retinol transport defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724261012	Progressive retinal dystrophy due to retinol transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7331861000146114	progressieve retinale dystrofie door retinoltransportdefect (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7331871000146115	progressieve retinale dystrofie door transporteffect van vitamine A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7331881000146118	progressieve retinale dystrofie door retinoltransportdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core