95243004: Rolland-Debuqois syndrome (disorder)

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

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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 (disorder)\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\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\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 (disorder)\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Rolland-Debuqois syndrome
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rolland-Debuqois syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rolland-Debuqois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rolland-Debuqois syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolland-Debuqois syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
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
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	Only initial character case insensitive (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
3437471001000115	Dysplasie, dyssegmentale, Typ Rolland-Desbuquois	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4729151000241114	dysplasie dyssegmentaire de type Rolland-Desbuquois	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4729151000241114	dysplasie dyssegmentaire de type Rolland-Desbuquois	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437471001000115	Dysplasie, dyssegmentale, Typ Rolland-Desbuquois	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module