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 |
| 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) | 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) | morphologie associée (attribut) | 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) | localisation d'une constatation (attribut) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | 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) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of palate | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR