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 |
1014711000172117 | syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
760441000241114 | syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
878611000172111 | syndrome de Bosma-Henkin-Christiansen | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | structure nasale externe | true | Inferred relationship | Some | 4 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Entire eye | true | Inferred relationship | Some | 1 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 3 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | est un(e) (attribut) | Hypoplasia of eye | true | Inferred relationship | Some | ||
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | est un(e) (attribut) | Congenital hypoplasia of nose | true | Inferred relationship | Some | ||
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 5 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | structure nasale externe | false | Inferred relationship | Some | 5 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Entire eye | false | Inferred relationship | Some | 6 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Entire eye | false | Inferred relationship | Some | 9 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 6 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | 8 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 9 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 7 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | localisation d'une constatation (attribut) | Entire eye | false | Inferred relationship | Some | 5 | |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets