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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\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\Finding of intellectual ability\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498637015 Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3498638013 Dysmorphism, short stature, deafness, disorder of sex development syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3498639017 Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Pseudohermaphroditism	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	5
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498637015	Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498638013	Dysmorphism, short stature, deafness, disorder of sex development syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498639017	Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module