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X-gebonden syndroom van Alport met diffuse leiomyomatose (aandoening)
X-gebonden syndroom van Alport met diffuse leiomyomatose
X-gebonden ziekte van Alport met diffuse leiomyomatose
X-linked diffuse leiomyomatosis with Alport syndrome
X-linked diffuse leiomyomatosis, Alport syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Id726106004
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Associated morphologyleiomyomatose
Occurrencecongenitaal
Has interpretationgestoord
Interpretsgehoorfunctie
SNOMED CT to Orphanet simple map1018
SNOMED CT to ICD-10 extended map
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