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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

94279017 Rhizomelic chondrodysplasia punctata syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
94280019 Chondrodysplasia punctata, rhizomelic type en Synonym Active Entire term case insensitive SNOMED CT core module
795232016 Rhizomelic chondrodysplasia punctata syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231632015 RCDP - Rhizomelic chondrodysplasia punctata en Synonym Active Entire term case sensitive SNOMED CT core module
1231633013 Chondrodysplasia punctata, autosomal recessive type en Synonym Active Entire term case insensitive SNOMED CT core module
1231634019 Rhizomelic chondrodysplasia punctata en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets

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