719205008: Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315412014 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3315413016 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Metaphyseal chondrodysplasia	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Progressive cone-rod dystrophy	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Finding site	Structure of neuroepithelial layer of retina	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	Disorder of visual pathways	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3315412014	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315413016	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module