205484001: Short rib polydactyly syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\...

\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome
\Congenital anomaly of limb\Polymelia\polydactylie\Short rib polydactyly syndrome

\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\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\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome

\Disease\Genetic disease\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Short rib polydactyly syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short rib polydactyly syndrome
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\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\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Short rib polydactyly syndrome
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Short rib polydactyly syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Short rib polydactyly syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Short rib polydactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315103013 Short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590857018 Short rib polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short rib polydactyly syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short rib polydactyly syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short rib polydactyly syndrome	est un(e) (attribut)	Short rib dysplasia	true	Inferred relationship	Some
Short rib polydactyly syndrome	est un(e) (attribut)	polydactylie	true	Inferred relationship	Some
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	morphologie associée (attribut)	Supernumerary structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	Bone structure of rib	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Short rib polydactyly syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	est un(e) (attribut)	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Short rib polydactyly syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Short rib polydactyly syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Short rib polydactyly syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short rib-polydactyly syndrome, Majewski type	est un(e) (attribut)	True	Short rib polydactyly syndrome	Inferred relationship	Some
Type III short rib polydactyly syndrome	est un(e) (attribut)	True	Short rib polydactyly syndrome	Inferred relationship	Some
Type IV short rib polydactyly syndrome	est un(e) (attribut)	True	Short rib polydactyly syndrome	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	est un(e) (attribut)	True	Short rib polydactyly syndrome	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
315103013	Short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590857018	Short rib polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core