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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305038013	Thong Douglas Ferrante syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401251016	A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401252011	A rare developmental defect during embryogenesis malformation syndrome characterised by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305036012	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305036012	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305038013	Thong Douglas Ferrante syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401251016	A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401252011	A rare developmental defect during embryogenesis malformation syndrome characterised by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434741001000112	Kleinwuchs-Schwerhörigkeit-neutrophile Funktionsstörung-Dysmorphien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434741001000112	Kleinwuchs-Schwerhörigkeit-neutrophile Funktionsstörung-Dysmorphien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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