56692003: Rhizomelic chondrodysplasia punctata syndrome (disorder)

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

\Deformity (finding)\Deformation of bone\Rhizomelic chondrodysplasia punctata syndrome
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome

\Musculoskeletal finding (finding)\Bone finding\Deformation of bone\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata 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\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (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 (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata 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\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (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 (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome
\Disease\Developmental disorder (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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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 (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Loss of multiple peroxisomal functions (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Metabolic bone disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	déformation d'un os	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Disorder of epiphysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Deformity (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	déformation d'un os	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Deformity (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rhizomelic chondrodysplasia punctata syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic chondrodysplasia punctata syndrome	Is a	Congenital deformity (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic chondrodysplasia punctata syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Deformation of bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
94280019	Chondrodysplasia punctata, rhizomelic type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795232016	Rhizomelic chondrodysplasia punctata syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231632015	RCDP - Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231633013	Chondrodysplasia punctata, autosomal recessive type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231634019	Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
94279017	Rhizomelic chondrodysplasia punctata syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
94279017	Rhizomelic chondrodysplasia punctata syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
94280019	Chondrodysplasia punctata, rhizomelic type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
94280019	Chondrodysplasia punctata, rhizomelic type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795232016	Rhizomelic chondrodysplasia punctata syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
795232016	Rhizomelic chondrodysplasia punctata syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231632015	RCDP - Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231632015	RCDP - Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231633013	Chondrodysplasia punctata, autosomal recessive type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231633013	Chondrodysplasia punctata, autosomal recessive type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231634019	Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231634019	Rhizomelic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425391001000115	Chondrodysplasia punctata, rhizomeler Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
174731000077117	chondrodysplasie ponctuée rhizomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
174731000077117	chondrodysplasie ponctuée rhizomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3425391001000115	Chondrodysplasia punctata, rhizomeler Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module