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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation générale à propos des tissus mous\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation générale à propos de l'observation du patient\Age AND/OR growth finding\Bone age finding (finding)\Delayed bone age\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation à propos d'un muscle\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Bone age finding (finding)\Delayed bone age\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\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 soft tissue\affection d'un muscle squelettique\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\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\trouble du développement\retard de développement\Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
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

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