1208746001: Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, 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\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \General finding of observation of patient\Age AND/OR growth finding\Bone age finding\Delayed bone age\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\Bone age finding\Delayed bone age\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, 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\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, 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\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental delay\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4970752014	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4970753016	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4970754010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core
4970755011	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, developmental delay, delayed bone age, short stature, generalised muscle weakness and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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