719835006: Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

\Disease\Genetic disease\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy 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 woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3318093013 Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

3318095018 Carvajal syndrome en Synonym Active Case sensitive SNOMED CT core

3318099012 Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

3318100016 Keratoderma with woolly hair type II en Synonym Active Initial character case insensitive SNOMED CT core

3318101017 Keratoderma with wooly hair type II en Synonym Active Initial character case insensitive SNOMED CT core

3318116019 Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318092015 This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. en Definition Active Case sensitive SNOMED CT core

3318102012 This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	4
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Autosomal recessive familial woolly hair	true	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure of sole of foot	true	Inferred relationship	Some	3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Congenital woolly hair	false	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Congestive cardiomyopathy	true	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	8
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Skin structure	false	Inferred relationship	Some	8
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Finding site	Hair shaft structure	false	Inferred relationship	Some	7
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Interprets	Keratinisation	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3318093013	Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318095018	Carvajal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318099012	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318100016	Keratoderma with woolly hair type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3318101017	Keratoderma with wooly hair type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3318116019	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318092015	This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease.	en	Definition	Active	Case sensitive	SNOMED CT core
3318102012	This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease.	en	Definition	Active	Case sensitive	SNOMED CT core