95243004: Rolland-Debuqois syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rolland-Debuqois syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rolland-Debuqois syndrome	Is a	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
Rolland-Debuqois syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Rolland-Debuqois syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Rolland-Debuqois syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
1235892010	Dyssegmental dysplasia - Rolland-Desbuquois type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7628731000172115	dysplasie dyssegmentaire de type Rolland-Desbuquois	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5499901000172111	DDRD - dyssegmentale dysplasie type Rolland-Desbuquois	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5499911000172114	dyssegmentale dwerggroei type Rolland-Desbuquois	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5499921000172116	Rolland-Desbuquois-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5499931000172118	syndroom van Rolland-Desbuquois	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5499941000172113	dyssegmentale dysplasie type Rolland-Desbuquois	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)