1217382002: Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial 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, autism, speech apraxia, craniofacial dysmorphism syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5036096015	Pilarowski Bjornsson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5036097012	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5036098019	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5036099010	A rare syndromic intellectual disability with characteristics of developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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