Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305231014 | Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305232019 | Cleft lip and cleft palate with ectodermal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305233012 | Zlotogora Ogur syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305234018 | Cleft lip and palate with syndactyly and pili torti | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305235017 | Zlotogora Zilberman Tenenbaum syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6200561000146115 | syndroom van Zlotogora-Zilberman-Tenenbaum | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6215691000146117 | Zlotogora-Ogur-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6648341000146118 | syndroom van cheilopalatoschisis met ectodermale dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6648351000146115 | syndroom van cheilopalatoschisis met ectodermale dysplasie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6653431000146113 | syndroom van gespleten lip en/of verhemelte en ectodermale dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3305236016 | Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. 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 |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Congenital anomaly of palate | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR