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X-gebonden immunoneurologische stoornis (aandoening)
X-gebonden immunoneurologische stoornis
X-gebonden immunoneurologische aandoening
syndroom van Woods-Black-Norbury
X-linked immunoneurologic disorder
Woods Black Norbury syndrome
A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.
Id719827008
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD82.8
TermImmunodeficiƫntie samengaand met andere gespecificeerde belangrijke defecten
SNOMED CT to Orphanet simple map2571
SNOMED CT to ICD-10 extended map
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