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 |
3331161015 | Fitzsimmons McLachlan Gilbert syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331163017 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331164011 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331162010 | This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Talipes cavus (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Rough skin of hands | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | interprète (attribut) | Keratinization, function (observable entity) | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | pied (structure corporelle) | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Claw-shaped deformity | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | région de la cheville (structure corporelle) | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Deformity | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Inherited disorder of keratinization | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Congenital paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | membre inférieur | false | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est défini par la manifestation de (attribut) | Abnormal keratinisation | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets