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

• SNOMED CT Concept\Clinical finding\...
• \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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy 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\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3757548019	46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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