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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970753016	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399872014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399873016	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970752014	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970753016	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399872014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399873016	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
474351000195113	Intelligenzminderung-Muskelschwäche-Kleinwuchs-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
474351000195113	Intelligenzminderung-Muskelschwäche-Kleinwuchs-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438021001000110	Intelligenzminderung--Muskelschwäche-Kleinwuchs-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Component annotation with string value reference set (foundation metadata concept)

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