| syndroom van niet-verworven gecombineerde hypofysehormoondeficiëntie, perceptief gehoorverlies en afwijking van wervelkolom (aandoening) | | syndroom van niet-verworven gecombineerde hypofysehormoondeficiëntie, perceptief gehoorverlies en afwijking van wervelkolom | | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome | | Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome
| | A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34. |
| | Id | 771308008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E23.0 | | Term | Hypopituïtarisme |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | Q76.4 | | Term | Overige congenitale misvormingen van wervelkolom, niet verband houdend met scoliose |
|
| SNOMED CT to Orphanet simple map | 231720 |
| 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 | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q76.4 | | Rule | TRUE | | Advice | ALWAYS Q76.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
