1255278004: syndroom van X-gebonden myotubulaire myopathie en afwijkend geslachtsorgaan (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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 anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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 anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Male genitalia finding\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Muscle finding\Disorder of muscle\...
• \Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Genetic disease\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \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)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5145830015	X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5145831016	Xq28 contiguous gene deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5145832011	X-linked myotubular myopathy, abnormal genitalia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13951751000146117	syndroom van X-gebonden myotubulaire myopathie en afwijkend geslachtsorgaan	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951761000146119	Xq28-'contiguous gene deletion'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951771000146113	syndroom van X-gebonden myotubulaire myopathie en abnormale genitaliën	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951781000146110	syndroom van X-gebonden myotubulaire myopathie en genitale afwijkingen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951791000146112	syndroom van X-gebonden myotubulaire myopathie en afwijkend geslachtsorgaan (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5145833018	A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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