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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \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
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\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 (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\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 (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\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
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Ear and auditory finding (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 (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Functional finding\Hearing finding (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
• \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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\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)\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)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498638013	Dysmorphism, short stature, deafness, disorder of sex development syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498639017	Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403697019	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by 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. It is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403698012	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterised by 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. It is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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