716192009: Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Thong Douglas Ferrante syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Thong Douglas Ferrante syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Thong Douglas Ferrante syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Thong Douglas Ferrante syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Thong Douglas Ferrante syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thong Douglas Ferrante syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Blood disease\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Thong Douglas Ferrante syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Thong Douglas Ferrante syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Thong Douglas Ferrante syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Thong Douglas Ferrante syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Thong Douglas Ferrante syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Thong Douglas Ferrante syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Thong Douglas Ferrante syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305036012	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305038013	Thong Douglas Ferrante syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305039017	This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.	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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