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\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome

\White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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\Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of immune function\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function\Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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\Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\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
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
\Disease\Developmental 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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

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 SNOMED CT core module

3305037015 Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3305038013 Thong Douglas Ferrante syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Heritable disorder of neutrophil function	true	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	4
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3305038013	Thong Douglas Ferrante syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module