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

SNOMED CT Concept\Clinical finding (finding)\...

\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 (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\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 (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\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 (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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 (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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 (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\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 nerve disease\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 nerve disease\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 nerve disease\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\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\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)\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)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy 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 (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\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 malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\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

4351731000052117 syndrom med gonaddysgenesi 46,XY och motorisk och sensorisk neuropati sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Gonadal dysgenesis	true	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Mixed sensory-motor polyneuropathy	true	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Finding site	Gonadal structure	true	Inferred relationship	Some	1
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	2
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
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
4351731000052117	syndrom med gonaddysgenesi 46,XY och motorisk och sensorisk neuropati	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)