1003860009: Rhizomelic chondrodysplasia punctata type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Deformity\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2

\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 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\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 2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2

\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 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\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 2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\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 2
\Disease\Metabolic disease\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 2

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166839011 Rhizomelic chondrodysplasia punctata type 2 en Synonym Active Case insensitive SNOMED CT core

4166840013 Rhizomelic chondrodysplasia punctata type 2 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rhizomelic chondrodysplasia punctata type 2	Is a	Rhizomelic chondrodysplasia punctata syndrome	true	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata type 2	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 2	Finding site	Bone structure	true	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata type 2	Finding site	Structure of epiphysis	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 2	Associated morphology	Deformity	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 2	Occurrence	Congenital	true	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4166839011	Rhizomelic chondrodysplasia punctata type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
4166840013	Rhizomelic chondrodysplasia punctata type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core