ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 — Syndromes with skin or mucosal anomalies as a major feature
LD27.0 — Ectodermal dysplasia syndromes
LD27.02 — Hypohidrotic ectodermal dysplasia
ICD-11 LD27.02 — Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: