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syndroom van alopecia, progressieve neurologische uitval en endocrinopathie (aandoening)
syndroom van alopecia, progressieve neurologische uitval en endocrinopathie
ANE-syndroom
Alopecia, progressive neurological defect, endocrinopathy syndrome
ANE syndrome
ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome
A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32.
Id770941005
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified