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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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\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:

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

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