| 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
| | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH 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. |
| | Id | 771308008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| 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 |
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