1197593006: Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, expressive aphasia, 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, expressive aphasia, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, expressive aphasia, 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, expressive aphasia, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Speech finding\Speech impairment\Dysphasia\Expressive dysphasia\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Neurological finding\Aphasia, agnosia, dyslexia AND/OR apraxia\Dyslexia AND/OR speech dysfunction\Dysphasia\Expressive dysphasia\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, expressive aphasia, 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, expressive aphasia, 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, expressive aphasia, 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, expressive aphasia, 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, expressive aphasia, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, expressive aphasia, 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, expressive aphasia, 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, expressive aphasia, facial dysmorphism syndrome

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697296018	Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697297010	Intellectual disability, loss of expressive language, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4697298017	Intellectual disability, expressive aphasia, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4697300017	A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioural difficulties and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core
4697301018	A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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