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 |
3324371017 | Biemond syndrome type 2 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324372012 | Biemond syndrome type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6589811000146115 | BS2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6589821000146113 | syndroom van Biemond type 2 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6589831000146110 | Biemond-syndroom type 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6746291000146112 | syndroom van coloboma iridis, kleine lengte, obesitas, hypogenitalisme, postaxiale polydactylie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7176971000146112 | syndroom van iriscoloboom, kleine gestalte, obesitas, hypogonadisme, postaxiale polydactylie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7176981000146114 | syndroom van iriscoloboom, kleine gestalte, obesitas, hypogonadisme, postaxiale polydactylie en verstandelijke beperking (aandoening) | nl | Fully specified name | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12577171000146118 | Biemond-syndroom type 2 (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3324374013 | An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets