719466009: Cleft palate with short stature and vertebral anomaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly syndrome
• \Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316452016	Mathieu De Broca Bony syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316453014	A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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