721146009: Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hernandez Aguirre Negrete 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\Hernandez Aguirre Negrete syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hernandez Aguirre Negrete syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hernandez Aguirre Negrete syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hernandez Aguirre Negrete syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hernandez Aguirre Negrete syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hernandez Aguirre Negrete syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hernandez Aguirre Negrete syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hernandez Aguirre Negrete syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hernandez Aguirre Negrete syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323699012	Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323700013	Intellectual disability, epilepsy, bulbous nose syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323701012	Hernandez Aguirre Negrete syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323702017	This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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