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kleine gestalte door deficiëntie van 'signal transducer and activator of transcription 5B' (aandoening)
kleine gestalte door deficiëntie van 'signal transducer and activator of transcription 5B'
Laron-achtig syndroom
kleine gestalte door STAT5b-deficiëntie
syndroom van Laron met immuundeficiëntie
Laron syndrome with immunodeficiency
Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency
Laron-like syndrome
This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive.
Id724179008
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
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
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified