| gecombineerde immunodeficiëntie door deficiëntie van 'GINS complex subunit 1' (aandoening) | | gecombineerde immunodeficiëntie door GINS1-deficiëntie | | gecombineerde immunodeficiëntie door deficiëntie van 'GINS complex subunit 1'
gecombineerde immuundeficiëntie met intra-uteriene groeiretardatie, NK-celdeficiëntie en neutropenie
gecombineerde immunodeficiëntie met intra-uteriene groeiretardatie, deficiëntie van 'natural killer'-cellen en neutropenie
| | Combined immunodeficiency due to GINS1 deficiency | | Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency
Combined immunodeficiency due to GINS complex subunit 1 deficiency
Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia
| | A rare syndrome with combined immunodeficiency and characteristics of intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema along with mild facial dysmorphism. |
| | Id | 1179286007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 505227 |
| SNOMED CT to ICD-10 extended map | | Target | D81.8 | | Rule | TRUE | | Advice | ALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
