720514008: syndroom van arthrogryposis multiplex congenita en fluitmond (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321093018	Arthrogryposis multiplex congenita and whistling face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321094012	Illum syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6722211000146115	syndroom van arthrogryposis multiplex congenita en fluitmond	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722221000146113	syndroom van arthrogryposis multiplex congenita en fluitmond (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6833151000146117	syndroom van Illum	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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