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Nijmegen-breuksyndroomachtige aandoening (aandoening)
Nijmegen-breuksyndroomachtige aandoening
NBS-achtige stoornis
syndroom van Nijmegen-breuksyndroomachtige aandoening
microcefalie en chromosomale instabiliteit zonder immunodeficiƫntie
NBSLD
microcefalie en chromosomale instabiliteit zonder immuundeficiƫntie
Nijmegen breakage syndrome-like disorder
Microcephaly and chromosomal instability without immunodeficiency
RAD50 deficiency
NBS-like (Nijmegen breakage syndrome-like) disorder
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Id766753005
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified