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 |
| 3316399012 | Disorder of sex development with intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316400017 | Disorder of sex development with intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316401018 | Pseudohermaphroditism with intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316402013 | Verloes Gillerot Fryns syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 754191000241112 | syndrome d'anomalie du développement sexuel-déficience intellectuelle (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941241000172112 | syndrome de Verloes-Gillerot-Fryns | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 975481000172115 | syndrome d'anomalie du développement sexuel-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3316403015 | A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Disorder of sex development with intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Genital structure | true | Inferred relationship | Some | 1 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | est un(e) (attribut) | Pseudohermaphroditism | true | Inferred relationship | Some | ||
| Disorder of sex development with intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Disorder of sex development with intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Disorder of sex development with intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Genital structure | false | Inferred relationship | Some | 2 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Genital structure | false | Inferred relationship | Some | 3 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Disorder of sex development with intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital anomaly | false | Inferred relationship | Some | 3 | |
| Disorder of sex development with intellectual disability 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
FHIR