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 |
3433562011 | Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
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 (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. | 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 | kongenit hypoplasi | 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 | øje som helhed | 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 | øje som helhed | 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 | kongenit lille statur | 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 | kongenit hypoplasi | 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 | øje som helhed | 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 | kongenit lille statur | 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 | øje som helhed | 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)