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

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

\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
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\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
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\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
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\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
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia 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 alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3314999017 Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome en Synonym Active Case insensitive SNOMED CT core

3315000017 Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Skin structure of sole of foot	true	Inferred relationship	Some	3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Ectodermal dysplasia	false	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Finding site	Hair structure	false	Inferred relationship	Some	9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	Congenital ectodermal defect	true	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Interprets	Keratinisation	false	Inferred relationship	Some	3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	3

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
3314998013	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314999017	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3315000017	Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core