1255278004: X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\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 anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia 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\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia 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 anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome

\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

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome

\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

\Disease\Genetic disease\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of body system\Musculoskeletal 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
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia 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\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\X-linked myotubular myopathy, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

5145831016 Xq28 contiguous gene deletion syndrome en Synonym Active Case sensitive SNOMED CT core

5145832011 X-linked myotubular myopathy, abnormal genitalia syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	Disorder of male reproductive system	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	Congenital anomaly of male urogenital tract	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	Genetic disease	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	Myotubular myopathy	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	46,XY disorder of sex development	true	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked myotubular myopathy, abnormal genitalia syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
X-linked myotubular myopathy, abnormal genitalia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
X-linked myotubular myopathy, abnormal genitalia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
X-linked myotubular myopathy, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked myotubular myopathy, abnormal genitalia syndrome	Finding site	Male genital structure	true	Inferred relationship	Some	2
X-linked myotubular myopathy, abnormal genitalia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
X-linked myotubular myopathy, abnormal genitalia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
X-linked myotubular myopathy, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
X-linked myotubular myopathy, abnormal genitalia syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	3
X-linked myotubular myopathy, abnormal genitalia syndrome	Associated morphology	Partial deletion	true	Inferred relationship	Some	3
X-linked myotubular myopathy, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
X-linked myotubular myopathy, abnormal genitalia syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	4
X-linked myotubular myopathy, abnormal genitalia syndrome	Associated morphology	Partial deletion	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5145830015	X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5145831016	Xq28 contiguous gene deletion syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5145832011	X-linked myotubular myopathy, abnormal genitalia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core