Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3308613015 | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308614014 | Keratoderma hereditarium mutilans with ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308615010 | Camisa disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308616011 | Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308617019 | Vohwinkel ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401497017 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401498010 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterised by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308613015 | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3308613015 | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308614014 | Keratoderma hereditarium mutilans with ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3308614014 | Keratoderma hereditarium mutilans with ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308615010 | Camisa disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308616011 | Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3308616011 | Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308617019 | Vohwinkel ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308618012 | A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401497017 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401498010 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterised by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3423661001000116 | Keratoderma hereditarium mutilans mit Ichthyose | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6406751000241113 | kératodermie mutilante héréditaire avec ichtyose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6406761000241111 | kératodermie mutilante héréditaire avec syndrome d'ichtyose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6406751000241113 | kératodermie mutilante héréditaire avec ichtyose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6406761000241111 | kératodermie mutilante héréditaire avec syndrome d'ichtyose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3423661001000116 | Keratoderma hereditarium mutilans mit Ichthyose | 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)