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722027009: Kallman syndrome with heart disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330212019 Kallman syndrome with heart disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330213012 Kallman syndrome with heart disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330214018 Kallman syndrome with cardiopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
2129551000172110 syndrome de Kallmann avec cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2129561000172112 syndrome de Kallman avec maladie cardiaque fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2129521000172116 syndroom van Kallmann met hartziekte nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2129531000172118 Kallmann-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
2129541000172113 Kallmann-syndroom met hartziekte nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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 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
Kallman syndrome with heart disease (disorder) Is a Cardiac complication true Inferred relationship Some
Kallman syndrome with heart disease (disorder) Finding site Structure of olfactory system (body structure) true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Kallman syndrome with heart disease (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Kallman syndrome with heart disease (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) Occurrence Congenital true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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