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 |
3332220011 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332226017 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332227014 | Sohval Soffer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
758781000241116 | syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
883521000172117 | syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
934841000172113 | syndrome de Sohval-Soffer | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3332228016 | This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Primary testicular failure (disorder) | true | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Testicular endocrine structure | false | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est défini par la manifestation de (attribut) | Decreased hormone production | false | Inferred relationship | Some | ||
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 3 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Testicular endocrine structure | true | Inferred relationship | Some | 1 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 2 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | interprète (attribut) | Hormone production, function (observable entity) | true | Inferred relationship | Some | 2 | |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets