Autosomal recessive SCID (severe combined immunodeficiency disease)	Congenital alopecia	Congenital anomaly of nail	Developmental hereditary disorder	Genetic disorder of nail	Hereditary disorder of the integument
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Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
	T-cell immunodeficiency, congenital alopecia, and nail dystrophy Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency Pignata Guarino syndrome Winged helix deficiency Alymphoid cystic thymic dysgenesis
	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.
	syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie
	'winged helix'-deficiëntie alymfoïde cysteuze thymusdysgenesie FOXN1-deficiëntie

Id	720345008
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Nail unit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Absence
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Occurrence	Congenital
Pathological process	Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D82.8
Rule	TRUE
Advice	ALWAYS D82.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.0
Rule	TRUE
Advice	ALWAYS Q84.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.6
Rule	TRUE
Advice	ALWAYS Q84.6
Correlation	SNOMED CT source code to target map code correlation not specified