20321000146101: congenitaal hypergonadotroop hypogonadisme (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 the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (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 endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (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 endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypergonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypergonadotropic hypogonadism (disorder)	Is a	Primary hypogonadism (disorder)	true	Inferred relationship	Some
Congenital hypergonadotropic hypogonadism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypergonadotropic hypogonadism (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital hypergonadotropic hypogonadism (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypergonadotropic hypogonadism with cataract syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Ovarian dysgenesis	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	False	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	False	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Is a	True	Congenital hypergonadotropic hypogonadism (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
147701000146117	Congenital hypergonadotropic hypogonadism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
147711000146115	Congenital hypergonadotropic hypogonadism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
705311000146111	congenitaal hypergonadotroop hypogonadisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
705321000146118	congenitaal hypergonadotroop hypogonadisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)