733050004: syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\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 (disorder)\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\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Pseudohermaphroditism\Dysmorphism, short stature, deafness, disorder of sex development syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
762841000241112	syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
974131000172112	syndrome de Ieshima-Koeda-Inagaki	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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