1003858007: Rhizomelic chondrodysplasia punctata type 3 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Deformity\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3

\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 3
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\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 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\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 3

\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 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\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 3
\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 3
\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 3
\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 3
\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 3
\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 3
\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 3
\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 3
\Disease\Metabolic disease\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\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 3
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Developmental disorder\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 3
\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 3

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

4166835017 Rhizomelic chondrodysplasia punctata type 3 en Synonym Active Entire term case insensitive SNOMED CT core module

4166836016 Rhizomelic chondrodysplasia punctata type 3 (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 3	Is a	Rhizomelic chondrodysplasia punctata syndrome	true	Inferred relationship	Existential restriction modifier
Rhizomelic chondrodysplasia punctata type 3	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 3	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic chondrodysplasia punctata type 3	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 3	Associated morphology	Deformity	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic chondrodysplasia punctata type 3	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4166835017	Rhizomelic chondrodysplasia punctata type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4166836016	Rhizomelic chondrodysplasia punctata type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module