1003862001: Rhizomelic chondrodysplasia punctata type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Bone finding\Disorder of bone\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\Congenital 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 of bone development\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\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 of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Congenital 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 of bone development\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\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 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\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\Congenital 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\Congenital malformation\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
\Disease\Congenital disease\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\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\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\Congenital 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. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4166843010 Rhizomelic chondrodysplasia punctata type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

4166844016 Rhizomelic chondrodysplasia punctata type 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Rhizomelic chondrodysplasia punctata type 1	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 1	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 1	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 1	Associated morphology	Deformity	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
4166844016	Rhizomelic chondrodysplasia punctata type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module