720501007: Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321044011	Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321045012	Arachnodactyly with abnormal ossification and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321046013	Kosztolanyi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321047016	A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	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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