Autosomal recessive hereditary disorder
Developmental hereditary disorder
Immunodeficiency associated with chromosomal abnormality
Short stature disorder
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Primary immunodeficiency syndrome due to p14 deficiency (disorder)
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.
primair immunodeficiëntiesyndroom door p14-deficiëntie
primair immunodeficiëntiesyndroom met kleine gestalte
primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie
Id718717004
StatusPrimitive
Due toChromosomal disorder
Pathological processAbnormal immune process
Pathological processPathological developmental process
InterpretsHeight / growth measure
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