723504000: Ramos Arroyo syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Ramos Arroyo 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\Ramos Arroyo syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Ramos Arroyo syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Ramos Arroyo syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Ramos Arroyo syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ramos Arroyo syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ramos Arroyo syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ramos Arroyo syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ramos Arroyo syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ramos Arroyo syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ramos Arroyo syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ramos Arroyo syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Ramos Arroyo syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424864017	Ramos Arroyo syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3424865016	Ramos Arroyo syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424866015	Corneal anesthesia, deafness, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424867012	Corneal anaesthesia, deafness, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424868019	An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.	en	Definition	Active	Case sensitive	SNOMED CT core
3424869010	An extremely rare genetic disorder characterised by corneal anaesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The aetiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.	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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