Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655988017 | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655989013 | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655990016 | Ectodermal dysplasia short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655991017 | Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655992012 | A rare genetic ectodermal dysplasia syndrome characterised by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with oesophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anaemia have also been observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655993019 | A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4134271000052119 | syndrom med nagel- och tand-abnormaliteter, marginell palmoplantar keratodermi och oral hyperpigmentering | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Congenital anomaly of nail | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Mucous membrane hyperplasia | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Melanin pigmentation of oral mucosa | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Ectodermal dysplasia with tooth-nail defects | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Has interpretation | Abnormal | false | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Tooth structure | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Interprets | Keratinization | false | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | nagel, struktur | false | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Oral mucous membrane structure | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Tooth structure | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Melanosis of mucosa of body orifice (disorder) | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Melanosis | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Congenital melanosis | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Congenital anomaly of oral mucosa | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Functional finding | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Nail unit structure | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Autosomal recessive ichthyosis (disorder) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Interprets | Colour of oral mucosa | true | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 8 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 8 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 9 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR