Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT code

SNOMED code

733050004

name

Dysmorphism, short stature, deafness, disorder of sex development syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)

synonyms

Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome
Dysmorphism, short stature, deafness, disorder of sex development syndrome

attributes - group2

Occurrence

Congenital 255399007

Finding site

Genital structure 71934003

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group1

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Finding site

Auditory structure 91159003

attributes - group4

Interprets

Hearing 47078008

attributes - group5

Interprets

Height / growth measure 271603002

attributes - group6

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group7

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Hearing loss associated with syndrome 232333009
Short stature disorder 237836003
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Reproductive system hereditary disorder 363290007
Multiple malformation syndrome with facial defects as major feature 65094009
Pseudohermaphroditism 75164001
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Hearing loss associated with syndrome 232333009
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Hereditary disorder by system 363137000
Reproductive system hereditary disorder 363290007
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of trunk structure 302292003
Finding of abdominopelvic segment of trunk 822987005
Urogenital finding 118238000
Genital finding 300479008
Congenital malformation of genital organs 204821009
Pseudohermaphroditism 75164001
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

ancestors

sorted most to least specific

Intellectual disability 110359009
Hearing loss associated with syndrome 232333009
Short stature disorder 237836003
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Reproductive system hereditary disorder 363290007
Multiple malformation syndrome with facial defects as major feature 65094009
Pseudohermaphroditism 75164001
Autosomal recessive hereditary disorder 85995004
Intellectual ability - finding 365814006
Hearing loss 15188001
Disorder of stature 237834000
Congenital anomaly of face 398302004
Congenital malformation of genital organs 204821009
Autosomal hereditary disorder 1899006
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Hereditary disorder by system 363137000
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Hearing disorder 128540005
General finding of height 248327008
Hereditary disease 32895009
Disorder of reproductive system 362968007
Disorder of face 118930001
Genitourinary congenital anomalies 287085006
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Finding of general physiological development 271616002
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Genital finding 300479008
Hearing finding 118230007
Height / growth finding 365714001
Disorder of auditory system 362966006
Genetic disease 782964007
Disorder of the genitourinary system 42030000
Disorder of head 118934005
Congenital anomaly of lower trunk 363030001
Finding of face 301310005
Functional finding 118228005
Body measurement finding 365605003
Ear and auditory finding 118236001
Urogenital finding 118238000
Congenital abnormality of lower limb and pelvic girdle 253937004
Disorder of body system 362965005
Disorder of abdominopelvic segment of trunk 822988000
Finding of head region 298364001
Congenital anomaly of trunk 78626001
Finding of abdominopelvic segment of trunk 822987005
Head finding 406122000
Congenital malformation 276654001
Disorder of trunk 128121009
Finding of trunk structure 302292003
Finding of head and neck region 118254002
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004

SNOMED CT code