720514008: Arthrogryposis multiplex congenita and whistling face syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Arthrogryposis multiplex congenita and whistling face syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Arthrogryposis multiplex congenita and whistling face syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321092011	Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321093018	Arthrogryposis multiplex congenita and whistling face syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321094012	Illum syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321095013	An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.	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

Problem/Diagnosis reference set

Description inactivation indicator reference set

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