715631005: Chondrodysplasia punctata Toriello type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata Toriello type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chondrodysplasia punctata Toriello type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \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\Chondrodysplasia punctata Toriello type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata Toriello type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303236018	Chondrodysplasia punctata Toriello type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3303237010	Chondrodysplasia punctata Toriello type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303238017	Toriello Higgins Miller syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3303239013	Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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