83579008: Mixed gonadal dysgenesis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Genetic finding\Genetic mosaic\Mosaic Turner syndrome\Mixed gonadal dysgenesis

\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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 endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis

\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome\Mixed gonadal dysgenesis
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome\Mixed gonadal dysgenesis
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome\Mixed gonadal dysgenesis
\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\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Mixed gonadal dysgenesis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234843014 Mosaicism 45, X; 46, XY en Synonym Active Initial character case insensitive SNOMED CT core

138614018 Mixed gonadal dysgenesis en Synonym Active Case insensitive SNOMED CT core

138615017 45, X/46, XY mosaicism en Synonym Active Case sensitive SNOMED CT core

825241017 Mixed gonadal dysgenesis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mixed gonadal dysgenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	Structure of genitourinary system	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital system	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Congenital anomaly of perineum	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gonad	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Disorder of testis	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Finding site	Ovarian structure	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Is a	Congenital anomaly of testis	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital system	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Is a	Gonadal dysgenesis	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Turner syndrome	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gland	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital organ	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Is a	Disorder of endocrine gonad	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gonad	true	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Is a	Mosaic Turner syndrome	true	Inferred relationship	Some
Mixed gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	true	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Interprets	Genetic test	true	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	Testis structure	false	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	Entire genital organ	false	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Some
Mixed gonadal dysgenesis	Finding site	Entire endocrine gonad	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1234843014	Mosaicism 45, X; 46, XY	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
138614018	Mixed gonadal dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core
138615017	45, X/46, XY mosaicism	en	Synonym	Active	Case sensitive	SNOMED CT core
825241017	Mixed gonadal dysgenesis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core