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 |
| 3316430013 | McPherson Clemens syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3316436019 | Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316437011 | Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316433010 | A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. | 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 intestinal malrotation and cardiopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | intestins | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy 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 intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Congenital malrotation of intestine | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Congenital malrotation (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | intestins | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR