56692003: Rhizomelic chondrodysplasia punctata syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome
\Deformity\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Metabolic disease\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231632015 RCDP - Rhizomelic chondrodysplasia punctata en Synonym Active Case sensitive SNOMED CT core

1231633013 Chondrodysplasia punctata, autosomal recessive type en Synonym Active Case insensitive SNOMED CT core

1231634019 Rhizomelic chondrodysplasia punctata en Synonym Active Case insensitive SNOMED CT core

795232016 Rhizomelic chondrodysplasia punctata syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

94279017 Rhizomelic chondrodysplasia punctata syndrome en Synonym Active Case insensitive SNOMED CT core

94280019 Chondrodysplasia punctata, rhizomelic type en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Is a	Congenital deformity	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Loss of multiple peroxisomal functions	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Deformity of bone	false	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Disorder of epiphysis	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Deformity	false	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	Deformity of bone	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Structure of epiphysis	false	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Deformity	false	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rhizomelic chondrodysplasia punctata type 1	Is a	True	Rhizomelic chondrodysplasia punctata syndrome	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata type 2	Is a	True	Rhizomelic chondrodysplasia punctata syndrome	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata type 3	Is a	True	Rhizomelic chondrodysplasia punctata syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1231632015	RCDP - Rhizomelic chondrodysplasia punctata	en	Synonym	Active	Case sensitive	SNOMED CT core
1231633013	Chondrodysplasia punctata, autosomal recessive type	en	Synonym	Active	Case insensitive	SNOMED CT core
1231634019	Rhizomelic chondrodysplasia punctata	en	Synonym	Active	Case insensitive	SNOMED CT core
795232016	Rhizomelic chondrodysplasia punctata syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
94279017	Rhizomelic chondrodysplasia punctata syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
94280019	Chondrodysplasia punctata, rhizomelic type	en	Synonym	Active	Case insensitive	SNOMED CT core