Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Disorder of sensory function
Disorder of vertebral column
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of nervous system
Panhypopituitarism
Sensorineural hearing loss
|||||||||
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)
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.
syndroom van niet-verworven gecombineerde hypofysehormoondeficiëntie, perceptief gehoorverlies en afwijking van wervelkolom
Id771308008
StatusPrimitive
Finding siteStructure of vertebral column
Finding siteStructure of auditory system
Finding siteAdenohypophysis structure
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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