Preferred Label : Trichothiodystrophy;
ICD-11 definition : Trichothiodystrophy is a heterogeneous group disorders characterized by short, brittle
hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing
keratins). Within the spectrum of the TTD syndromes are numerous syndromes affecting
mainly organs derived from the neuroectoderm. The clinical appearance is always characterized
by brittle and fragile hair, often combined with growth retardation and intellectual
deficit, congenital ichthyosis and nail abnormalities, among other symptoms.;
Origin ID : 1366758649;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Trichothiodystrophy is a heterogeneous group disorders characterized by short, brittle
hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing
keratins). Within the spectrum of the TTD syndromes are numerous syndromes affecting
mainly organs derived from the neuroectoderm. The clinical appearance is always characterized
by brittle and fragile hair, often combined with growth retardation and intellectual
deficit, congenital ichthyosis and nail abnormalities, among other symptoms.
