Autosomal recessive hereditary disorder
Combined immunodeficiency disease
Congenital anomaly of optic nerve
Congenital anomaly of skeletal bone
Congenital atrophy of optic nerve
Congenital degeneration of nervous system
Congenital immunodeficiency disease
Developmental hereditary disorder
Hereditary degenerative disease of central nervous system
Hereditary disorder of immune system
Hereditary disorder of musculoskeletal system
Inherited optic neuropathy
Multiple malformation syndrome with facial defects as major feature
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Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome
Roifman Chitayat syndrome
An extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
syndroom van gecombineerde immunodeficiëntie en facio-oculoskeletale afwijkingen
syndroom van Roifman-Chitayat
Id770625006
StatusPrimitive
Associated morphologyAtrophy
Finding siteOptic nerve structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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