Autosomal recessive SCID (severe combined immunodeficiency disease)
Congenital anomaly of lung
Developmental hereditary disorder
Fibrosis of lung
Hereditary disorder of endocrine system
Pure gonadal dysgenesis 46,XX
Reproductive system hereditary disorder
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Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)
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.
syndroom van longfibrose, immunodeficiëntie en 46,XX-gonadale dysgenesie
syndroom van longfibrose, immuundeficiëntie en 46,XX-gonadale dysgenesie
Id721977007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteOvarian endocrine structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsHormone secretion
Associated morphologyFibrosis
Finding siteLung structure
OccurrenceCongenital
Pathological processPathological developmental process
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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