765761009: Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Cardiovascular finding\Cardiovascular disease\...
• \Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Chronic disease\Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect 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\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3659614016	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3659615015	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3659616019	Stratton Garcia Young syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3659618018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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