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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (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\Pseudohermaphroditism (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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism (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\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\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\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\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\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\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 (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 (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)\Intelligenzminderung\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Dysmorphism, short stature, deafness, disorder of sex development syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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\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\Disorder of foetus and/or newborn\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 (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (disorder)\Hearing loss\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\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\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\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\Pseudohermaphroditism (disorder)\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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Developmental disorder (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 (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 (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism (disorder)\Dysmorphism, short stature, deafness, disorder of sex development syndrome
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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

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

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 Entire term case sensitive (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

3443421001000111 Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

971271000172115 syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974131000172112 syndrome de Ieshima-Koeda-Inagaki fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

971271000172115 syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974131000172112 syndrome de Ieshima-Koeda-Inagaki fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3443421001000111 Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Pseudohermaphroditism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Short stature disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Reproductive system hereditary disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
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
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	Entire term case sensitive (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
3443421001000111	Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971271000172115	syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974131000172112	syndrome de Ieshima-Koeda-Inagaki	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971271000172115	syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974131000172112	syndrome de Ieshima-Koeda-Inagaki	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443421001000111	Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module