719104003: Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\...
• \Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \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 (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \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 (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314998013	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314999017	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315000017	Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315001018	A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3902681000052117	autosomalt recessivt syndrom med palmoplantar keratodermi och medfödd alopeci	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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