Thong Douglas Ferrante syndrome 716192009

SNOMED CT code

SNOMED code

716192009

name

Thong Douglas Ferrante syndrome

status

active

date introduced

2016-07-31

fully specified name(s)

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

synonyms

Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
Thong Douglas Ferrante syndrome

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group3

Pathological process

Abnormal immune process 769247005

attributes - group4

Finding site

Auditory structure 91159003

attributes - group2

Interprets

Hearing 47078008

parents

Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Heritable disorder of neutrophil function 402794002
Sensorineural hearing loss 60700002
Multiple malformation syndrome, moderate short stature, facial 77701002

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Thong Douglas Ferrante syndrome 716192009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Thong Douglas Ferrante syndrome 716192009

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of blood, lymphatics and immune system 299691001
Disorder of cellular component of blood 414022008
White blood cell disorder 54097007
Disorder of neutrophils 105600002
Heritable disorder of neutrophil function 402794002
Thong Douglas Ferrante syndrome 716192009

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Sensorineural hearing loss 60700002
Thong Douglas Ferrante syndrome 716192009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome, moderate short stature, facial 77701002
Thong Douglas Ferrante syndrome 716192009

ancestors

sorted most to least specific

Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Heritable disorder of neutrophil function 402794002
Sensorineural hearing loss 60700002
Multiple malformation syndrome, moderate short stature, facial 77701002
Disorder of neutrophils 105600002
Hearing loss 15188001
Multiple system malformation syndrome 82354003
Qualitative abnormality of granulocyte 319171004
Hereditary white blood cell disorder 414395005
White blood cell disorder 54097007
Hearing disorder 128540005
Congenital malformation syndrome 400038003
Hereditary disorder of immune system 363138005
Hereditary disorder of cellular element of blood 414393003
Disorder of auditory system 362966006
Disorder of cellular component of blood 414022008
Hearing finding 118230007
Congenital malformation 276654001
Hereditary disorder by system 363137000
Disorder of immune function 414029004
Ear and auditory finding 118236001
Hereditary disease 32895009
Finding of blood, lymphatics and immune system 299691001
Functional finding 118228005
Developmental disorder 5294002
Disorder of body system 362965005
Congenital disease 66091009
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Ear and auditory finding 118236001

Disorder of auditory system 362966006

Auditory system hereditary disorder 362991006

Thong Douglas Ferrante syndrome 716192009

SNOMED CT code