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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \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 1
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 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 anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \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 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 anomaly\Congenital deformity\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Rhizomelic chondrodysplasia punctata syndrome\Rhizomelic chondrodysplasia punctata type 1
• \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 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4166843010	Rhizomelic chondrodysplasia punctata type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4166844016	Rhizomelic chondrodysplasia punctata type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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