Autosomal recessive hereditary disorder	Congenital alopecia	Developmental hereditary disorder	Ectodermal dysplasia with hair-tooth defects	Hereditary disorder of the integument	Hereditary disorder of tooth	Multiple malformation syndrome with limb defect as major feature	Syndactyly
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Ectodermal dysplasia syndactyly syndrome (disorder)
	Ectodermal dysplasia syndactyly syndrome
	A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23.
	syndroom van ectodermale dysplasie en syndactylie
	EDSS1 EDSS

Id	771335004
Status	Primitive

Associated morphology	Congenital abnormal fusion
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q82.8
Rule	TRUE
Advice	ALWAYS Q82.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified