789676005: Blue cone monochromatism (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)

\Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of vision (disorder)\Color vision deficiency (disorder)\Congenital color blindness\Blue cone monochromatism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blue cone monochromatism (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Blue cone monochromatism (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Color vision deficiency (disorder)\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Colour blindness\Congenital color blindness\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Cone dystrophy\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Blue cone monochromatism (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Blue cone monochromatism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3791524012 Blue cone monochromatism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791525013 Blue cone monochromatism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791529019 Cone monochromatism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791524012 Blue cone monochromatism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791525013 Blue cone monochromatism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791529019 Cone monochromatism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

506881000274119 Atypische X-chromosomale Achromatopsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429441001000119 Blauzapfenmonochromasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007171000241113 achromatopsie incomplète liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007181000241110 monochromatisme à cônes bleus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007191000241112 monochromatisme à cônes S fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007171000241113 achromatopsie incomplète liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007181000241110 monochromatisme à cônes bleus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6007191000241112 monochromatisme à cônes S fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

506881000274119 Atypische X-chromosomale Achromatopsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429441001000119 Blauzapfenmonochromasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blue cone monochromatism (disorder)	Is a	Congenital anomaly of retina	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder)	Is a	Cone dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blue cone monochromatism (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blue cone monochromatism (disorder)	Is a	Congenital color blindness	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blue cone monochromatism (disorder)	Finding site	Cone of retina	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blue cone monochromatism (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (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

This concept is not in any reference sets