Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234039012 | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234040014 | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 14339201000146116 | syndroom van ectodermale dysplasie, hyperhidrose en cutane syndactylie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14339211000146119 | syndroom van ectodermale dysplasie, overmatige transpiratie en eenvoudige syndactylie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14339221000146112 | syndroom van ectodermale dysplasie, hyperhidrose en cutane syndactylie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5234041013 | A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth-nail defects | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Enamel hypoplasia | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Hypotrichosis | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Amelogenesis imperfecta (disorder) | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Skin lesion | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Skin structure of digit (body structure) | true | Inferred relationship | Some | 4 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | congenitale afwijkende fusie | false | Inferred relationship | Some | 4 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 5 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Enamel structure | true | Inferred relationship | Some | 6 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 7 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 7 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 8 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 8 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 2 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 3 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Is a | Hyperhidrosis | true | Inferred relationship | Some | ||
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Finding site | Sweat gland structure | true | Inferred relationship | Some | 10 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 9 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Has interpretation | Excessive | true | Inferred relationship | Some | 9 | |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR