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 |
| 3324385010 | An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401629017 | A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401630010 | A rare ectodermal dysplasia syndrome characterised by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324377018 | Blepharocheilodontic syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324378011 | Blepharocheilodontic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324382013 | Blepharo-cheilo-odontic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324383015 | Clefting, ectropion, conical teeth syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324384014 | Elsching syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Finding site | Ectoderm structure | false | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR