Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1013341000241111 | syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3704764011 | Char Douglas Dungan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704765012 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704766013 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704767016 | A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | localisation d'une constatation (attribut) | structure de la voie de conduction ventriculaire (structure corporelle) | true | Inferred relationship | Some | 2 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | morphologie associée (attribut) | Hyperpigmentation (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 3 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Multiple premature ventricular complexes | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 3 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Ventricular premature beats | false | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | est un(e) (attribut) | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR