1003862001: Rhizomelic chondrodysplasia punctata type 1 (disorder)

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

\Deformity (finding)\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Deformity (finding)\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1

\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\Rhizomelic chondrodysplasia punctata type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\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\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\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\Rhizomelic chondrodysplasia punctata type 1
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Metabolic disease\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rhizomelic chondrodysplasia punctata type 1	Is a	Rhizomelic chondrodysplasia punctata syndrome	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 1	Finding site	Bone structure	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 1	Finding site	Structure of epiphysis	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 1	Associated morphology	Deformity	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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
4166843010	Rhizomelic chondrodysplasia punctata type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4166844016	Rhizomelic chondrodysplasia punctata type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7629811000172112	chondrodysplasie ponctuée rhizomélique de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5502101000172111	rizomelisch chondrodysplasia punctata type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)