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syndroom van osteopetrose en hypogammaglobulinemie (aandoening)
syndroom van osteopetrose en hypogammaglobulinemie
autosomaal recessieve osteopetrose type 7
autosomaal recessieve osteoclast-arme osteopetrose met hypogammaglobulinemie
Osteopetrosis hypogammaglobulinemia syndrome
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
Id773730002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
Finding sitestructuur van immuunsysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.2
RuleTRUE
AdviceALWAYS Q78.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD80.0
RuleTRUE
AdviceALWAYS D80.0
CorrelationSNOMED CT source code to target map code correlation not specified