FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5402775017 Kallmann syndrome with cardiopathy is characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402776016 Kallmann syndrome with cardiopathy is characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402775017 Kallmann syndrome with cardiopathy is characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402776016 Kallmann syndrome with cardiopathy is characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3408381001000116 Kallmann-Syndrom - Kardiopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5483281000241116 syndrome de Kallmann avec cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5483281000241116 syndrome de Kallmann avec cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408381001000116 Kallmann-Syndrom - Kardiopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Kallman syndrome with heart disease Due to Isolated gonadotropin deficiency true Inferred relationship Existential restriction modifier (core metadata concept) 5
Kallman syndrome with heart disease Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Hypogonadism with anosmia true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Has definitional manifestation Loss of sense of smell false Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Kallman syndrome with heart disease Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Kallman syndrome with heart disease Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Kallman syndrome with heart disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Kallman syndrome with heart disease Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Kallman syndrome with heart disease Interprets Sense of smell, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Kallman syndrome with heart disease Finding site Nasal structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Kallman syndrome with heart disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Kallman syndrome with heart disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Kallman syndrome with heart disease Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Kallman syndrome with heart disease Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 3
Kallman syndrome with heart disease Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4
Kallman syndrome with heart disease Is a Cardiac complication (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Finding site Structure of olfactory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Kallman syndrome with heart disease Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Kallman syndrome with heart disease Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Kallman syndrome with heart disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start