722385008: Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Rough skin\Rough skin of hands\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Rough skin of hands\CEDNIK syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\CEDNIK syndrome
• \Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\CEDNIK syndrome
• \General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Rough skin of hands\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\CEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Functional finding\Abnormal keratinisation\...
• \Rough skin\Rough skin of hands\CEDNIK syndrome
• \Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK 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\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Rough skin\Rough skin of hands\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Rough skin of hands\CEDNIK syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\CEDNIK 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\CEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK 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\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\CEDNIK syndrome
• \Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Congenital disease\Neurocutaneous syndrome\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\Hereditary diffuse palmoplantar keratoderma\CEDNIK 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\CEDNIK syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\CEDNIK syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\CEDNIK syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\CEDNIK syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331783012	Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331784018	Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331785017	CEDNIK syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331786016	CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331787013	A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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