1177167002: Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, 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, seizures, abnormal gait, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, abnormal gait, 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, seizures, abnormal gait, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
• \Disease\Genetic disease\Intellectual disability, seizures, abnormal gait, 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, seizures, abnormal gait, 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, seizures, abnormal gait, 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, seizures, abnormal gait, 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, seizures, abnormal gait, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, seizures, abnormal gait, 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, seizures, abnormal gait, 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, seizures, abnormal gait, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643799014	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4643800013	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4643801012	Skraban Deardorff syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4643802017	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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