783091003: 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)

• 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757547012	46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757548019	46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757549010	A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757550010	A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH).	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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