720502000: Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Deformity\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Finding of limb structure\Deformity of limb\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism 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\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321048014	Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321049018	Arachnodactyly and intellectual disability with facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321050018	De Die, Smulders, Vles, Fryns syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321052014	This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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