724278007: Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Inflammatory disorder of digestive system\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Functional finding\Abnormal keratinisation\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of digestive system\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Inflammatory disorder of digestive system\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3433517012 Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3433518019 Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome en Synonym Active Case insensitive SNOMED CT core

3433519010 Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome en Synonym Active Case insensitive SNOMED CT core

3433520016 NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome en Synonym Active Case sensitive SNOMED CT core

3433521017 NISCH syndrome en Synonym Active Case sensitive SNOMED CT core

3433522012 A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Congenital abnormality of liver and/or biliary tract	false	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Hair structure	true	Inferred relationship	Some	2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Biliary tract structure	true	Inferred relationship	Some	1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Sclerosing inflammation	true	Inferred relationship	Some	5
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Entire skin	true	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Inflammatory hereditary disorder	false	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Congenital anomaly of biliary tract	true	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Congenital hypotrichia	true	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Sclerosing cholangitis	true	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	5
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Finding site	Biliary tract structure	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3433517012	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3433518019	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3433519010	Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3433520016	NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433521017	NISCH syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433522012	A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core