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X-linked severe congenital neutropenia (disorder)
X-linked severe congenital neutropenia
This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.
X-gebonden ernstige congenitale neutropenie
Id718882006
StatusDefined
OccurrenceCongenital
Pathological processAbnormal immune process
Has interpretationBelow reference range
InterpretsNeutrophil count
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified