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) |
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 |