Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304703014 | Schmitt Gillenwater Kelly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311178015 | Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3311179011 | Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6372351000146113 | syndroom van Schmitt-Gillenwater-Kelly | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7050711000146114 | syndroom van hypoplasie van radius, trifalangeale duim, hypospadie en maxillair diasteem | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12021361000146117 | syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12208611000146118 | syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3304704015 | This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. | 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