722027009: Kallman syndrome with heart disease (disorder)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3330212019	Kallman syndrome with heart disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3330213012	Kallman syndrome with heart disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3330214018	Kallman syndrome with cardiopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3330215017	Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3925081000052111	Kallmans syndrom med hjärtsjukdom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kallman syndrome with heart disease (disorder)	Due to	Isolated gonadotropin deficiency	true	Inferred relationship	Some	5
Kallman syndrome with heart disease (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Is a	Hypogonadism with anosmia	true	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	false	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Has definitional manifestation	Loss of sense of smell	false	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	5
Kallman syndrome with heart disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Kallman syndrome with heart disease (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	5
Kallman syndrome with heart disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	false	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Kallman syndrome with heart disease (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Kallman syndrome with heart disease (disorder)	Interprets	Sense of smell, function (observable entity)	true	Inferred relationship	Some	4
Kallman syndrome with heart disease (disorder)	Finding site	Nasal structure	false	Inferred relationship	Some	6
Kallman syndrome with heart disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Kallman syndrome with heart disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Kallman syndrome with heart disease (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Kallman syndrome with heart disease (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	3
Kallman syndrome with heart disease (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	4

Inbound Relationships

Characteristic

Refinability

Reference Sets