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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) survenue (attribut) congénital true Inferred relationship Some 3
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 3
Kallman syndrome with heart disease (disorder) a pour interprétation (attribut) Absent true Inferred relationship Some 4
Kallman syndrome with heart disease (disorder) est un(e) (attribut) complication cardiaque true Inferred relationship Some
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) Structure of olfactory system (body structure) true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Due to Isolated gonadotropin deficiency true Inferred relationship Some 5
Kallman syndrome with heart disease (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) dysplasie olfactogénitale true Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) false Inferred relationship Some
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some
Kallman syndrome with heart disease (disorder) est défini par la manifestation de (attribut) perte du sens de l'odorat (constatation) false Inferred relationship Some
Kallman syndrome with heart disease (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Kallman syndrome with heart disease (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 5
Kallman syndrome with heart disease (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 2
Kallman syndrome with heart disease (disorder) interprète (attribut) Sense of smell, function (observable entity) true Inferred relationship Some 4
Kallman syndrome with heart disease (disorder) localisation d'une constatation (attribut) structure nasale false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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