719205008: syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...

\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

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

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Finding of head 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)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\maladie chronique\trouble neurologique chronique\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

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

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 (core metadata concept) SNOMED CT core

3315413016 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

753731000241112 syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

902021000172112 syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

922781000172118 SMD-CRD - spondylometaphyseal dysplasia, cone-rod dystrophy syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315414010 This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. 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
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	Neuroepithelial layer	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	maladie chronique de l'appareil locomoteur	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	trouble neurologique chronique	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary retinal dystrophy	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Disorder of visual pathways (disorder)	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Metaphyseal chondrodysplasia	false	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Progressive cone-rod dystrophy	false	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some	3
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	4

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 (core metadata concept)	SNOMED CT core
3315413016	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753731000241112	syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
902021000172112	syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
922781000172118	SMD-CRD - spondylometaphyseal dysplasia, cone-rod dystrophy syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315414010	This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core