722944006: Congenital hypogonadotropic hypogonadism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypogonadotropic hypogonadism (disorder)	Is a	Hypogonadotropic hypogonadism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypogonadotropic hypogonadism (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypogonadotropic hypogonadism (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypogonadotropic hypogonadism (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital hypogonadotropic hypogonadism (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypogonadotropic hypogonadism (disorder)	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31.	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Prader-Willi syndrome	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital leptin deficiency	Is a	True	Congenital hypogonadotropic hypogonadism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3334000019	Congenital hypogonadotropic hypogonadism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334001015	Congenital hypogonadotropic hypogonadism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334000019	Congenital hypogonadotropic hypogonadism (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3334000019	Congenital hypogonadotropic hypogonadism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334001015	Congenital hypogonadotropic hypogonadism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3334001015	Congenital hypogonadotropic hypogonadism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3410291001000113	Hypogonadotroper Hypogonadismus, isolierter kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
869451000172110	hypogonadisme hypogonadotrope congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
869451000172110	hypogonadisme hypogonadotrope congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410291001000113	Hypogonadotroper Hypogonadismus, isolierter kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module