773773006: syndrome d'acrodysplasie-scoliose (trouble)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (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\Dysostosis\Acrodysplasia scoliosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (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\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Acrodysplasia scoliosis (disorder)
\Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Acrodysplasia scoliosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Acrodysplasia scoliosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrodysplasia scoliosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	localisation d'une constatation (attribut)	Musculoskeletal structure of spine	true	Inferred relationship	Some	3
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	déformation scoliotique de la colonne vertébrale	true	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrodysplasia scoliosis (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
Acrodysplasia scoliosis (disorder)	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	1
Acrodysplasia scoliosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	brachydactylie	true	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	Congenital anomaly of vertebral region of back	true	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	morphologie associée (attribut)	Lateral abnormal curvature	true	Inferred relationship	Some	3
Acrodysplasia scoliosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Acrodysplasia scoliosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	Congenital deformity of spine	false	Inferred relationship	Some

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
3726306017	Acrodysplasia scoliosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726307014	Acrodysplasia scoliosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726308016	Brachydactyly, scoliosis, carpal fusion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726309012	Prata Liberal Goncalves syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
772081000241118	syndrome d'acrodysplasie-scoliose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
986771000172110	syndrome de Prata-Liberal-Goncalves	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
991991000172116	syndrome d'acrodysplasie-scoliose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3726310019	A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core