||||||||
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.
Id771308008
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ76.4
RuleTRUE
AdviceALWAYS Q76.4
CorrelationSNOMED CT source code to target map code correlation not specified