763744009: Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)

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

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643603017	Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3643604011	Intellectual disability, brachydactyly, Pierre Robin syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643605012	A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	en	Definition	Active	Case sensitive	SNOMED CT core
3777474010	A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary haemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	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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