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205681004: gonadale dysgenesie (aandoening)

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
\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
\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis
\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
\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
\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
\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
\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
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gonadal dysgenesis	Is a	Disorder of endocrine gonad	false	Inferred relationship	Some
Gonadal dysgenesis	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Gonadal dysgenesis	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Some	1
Gonadal dysgenesis	Is a	Disorder of reproductive system	false	Inferred relationship	Some
Gonadal dysgenesis	Is a	Genital finding	false	Inferred relationship	Some
Gonadal dysgenesis	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Some	2
Gonadal dysgenesis	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Some	2
Gonadal dysgenesis	Is a	Congenital malformation of genital organs (disorder)	true	Inferred relationship	Some
Gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Gonadal dysgenesis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Gonadal dysgenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mixed gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Other gonadal dysgenesis phenotype NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Gonadal dysgenesis NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Ovarian dysgenesis	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Testicular regression syndrome	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of ovary	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Pure gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of testis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital absence of gonads	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital hypoplasia of gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Accessory gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Splenogonadal fusion	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Male pseudohermaphroditism	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
ovotestis	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Warburg micro syndrome	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	True	Gonadal dysgenesis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
315432016	Gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591083017	Gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
370971000146117	gonadale dysgenesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
370981000146115	gonadale dysgenesie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)