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 |
5401958017 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401959013 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterised by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314998013 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 |
5401958017 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401959013 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterised by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3388111001000118 | Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756481000241111 | hyperkératose palmoplantaire et alopécie congénitale autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756491000241113 | kératodermie palmoplantaire et alopécie congénitale de type Wallis | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756501000241118 | syndrome autosomique récessif de kératodermie palmoplantaire et d'alopécie congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756481000241111 | hyperkératose palmoplantaire et alopécie congénitale autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756491000241113 | kératodermie palmoplantaire et alopécie congénitale de type Wallis | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5756501000241118 | syndrome autosomique récessif de kératodermie palmoplantaire et d'alopécie congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3388111001000118 | Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)