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 |
| 6585211000146119 | syndroom van McPherson-Clemens | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6997271000146111 | syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6997281000146113 | syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6997291000146110 | syndroom van gespleten gehemelte en gespleten lip, intestinale malrotatie en hartafwijking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6997301000146114 | syndroom van cheilopalatoschisis, intestinale malrotatie en hartaandoening | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Congenital malrotation of intestine | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | 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) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 6 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Intestinal structure | false | Inferred relationship | Some | 7 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Finding site | Palatal structure | false | 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 | 1 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Occurrence | Congenital | 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) | Finding site | Palatal structure | true | Inferred relationship | Some | 3 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | 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) | Finding site | Intestinal structure | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Associated morphology | 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) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR