Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5403300017 | This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403301018 | This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3433559013 | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3433560015 | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3433561016 | Bosma Henkin Christiansen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
878611000172111 | syndrome de Bosma-Henkin-Christiansen | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1014711000172117 | syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
602771000274117 | Arhinie-Mikrophthalmie-Syndrom Bosma | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3425341001000114 | Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Is a | Hypoplasia of eye | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Is a | Congenital hypoplasia of nose | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | External nose structure | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | œil entier | false | Inferred relationship | Some | 6 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | œil entier | false | Inferred relationship | Some | 9 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 6 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | Structure of distal part of pituitary | false | Inferred relationship | Some | 8 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 9 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 7 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | œil entier | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | External nose structure | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | œil entier | false | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 3 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | Finding site | Entire eye proper | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)