95243004: Rolland-Debuqois syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Rolland-Debuqois syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Rolland-Debuqois syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois 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

1235892010 Dyssegmental dysplasia - Rolland-Desbuquois type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

157764012 Rolland-Debuqois syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

839356011 Rolland-Debuqois syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rolland-Debuqois syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Rolland-Debuqois syndrome	est un(e) (attribut)	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Rolland-Debuqois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Rolland-Debuqois syndrome	est un(e) (attribut)	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
Rolland-Debuqois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Rolland-Debuqois syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1235892010	Dyssegmental dysplasia - Rolland-Desbuquois type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
157764012	Rolland-Debuqois syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
839356011	Rolland-Debuqois syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core