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 |
3323406018 | Deafness, enamel hypoplasia, nail defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323407010 | Deafness, enamel hypoplasia, nail defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323408017 | Heimler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6214291000146119 | doofheid-glazuurhypoplasie-nageldefect-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6214301000146115 | syndroom van Heimler | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6215701000146117 | Heimler-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6674291000146113 | syndroom van doofheid, glazuurhypoplasie en nageldefect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6674301000146112 | syndroom van doofheid, glazuurhypoplasie en nageldefect (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3323409013 | This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323410015 | This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Enamel hypoplasia | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Congenital anomaly of nail | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Ectodermal dysplasia with tooth-nail defects | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | structuur van unguis (lichaamsstructuur) | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 9 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | false | Inferred relationship | Some | 9 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | false | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Peroxisome biogenesis disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 5 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | true | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets