syndroom van disfunctie van adenohypofyse en 'common variable immunodeficiency' (aandoening) | | syndroom van disfunctie van adenohypofyse en 'common variable immunodeficiency' | | syndroom van adenohypofysaire disfunctie en CVID
| | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome
| | A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. |
| Id | 773664005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 293978 |
SNOMED CT to ICD-10 extended map | Target | E23.0 | Rule | TRUE | Advice | ALWAYS E23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | D89.8 | Rule | TRUE | Advice | ALWAYS D89.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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