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syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie (aandoening)
syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie
'winged helix'-deficiëntie
alymfoïde cysteuze thymusdysgenesie
FOXN1-deficiëntie
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
Pignata Guarino syndrome
Winged helix deficiency
Alymphoid cystic thymic dysgenesis
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency
A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein.
Id720345008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Occurrencecongenitaal
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
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.6
RuleTRUE
AdviceALWAYS Q84.6
CorrelationSNOMED CT source code to target map code correlation not specified