733050004: Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498637015	Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498638013	Dysmorphism, short stature, deafness, disorder of sex development syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498639017	Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499949012	Syndrome with characteristics of dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism and growth and psychomotor retardation. It has been described in two siblings. The disease is transmitted as an autosomal recessive trait.	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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