autosomaal recessieve hereditaire aandoening
dwerggroei
hereditaire ontwikkelingsstoornis
immunodeficiëntie bij chromosomale afwijking
||||
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
Due tochromosomale aandoening
Pathological processafwijkend immuunproces
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD82.8
TermImmunodeficiëntie samengaand met andere gespecificeerde belangrijke defecten
SNOMED CT to Orphanet simple map90023
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