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syndroom van longfibrose, immunodeficiëntie en 46,XX-gonadale dysgenesie (aandoening)
syndroom van longfibrose, immunodeficiëntie en 46,XX-gonadale dysgenesie
syndroom van longfibrose, immuundeficiëntie en 46,XX-gonadale dysgenesie
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
This syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
Id721977007
StatusPrimitive
Associated morphologyfibrose
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
Has interpretationverlaagd
Interpretshormoonsecretie
referentieset met complexe 'mapping' naar ICD-10
TargetD82.8
RuleTRUE
AdviceALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetJ84.1
RuleTRUE
AdviceALWAYS J84.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ99.1
RuleTRUE
AdviceALWAYS Q99.1
CorrelationSNOMED CT source code to target map code correlation not specified