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primair immunodeficiëntiesyndroom door p14-deficiëntie (aandoening)
primair immunodeficiëntiesyndroom door p14-deficiëntie
primair immunodeficiëntiesyndroom met kleine gestalte
primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14.
Id718717004
StatusPrimitive
Pathological processafwijkend immuunproces
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