Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704812013 | PARC syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704816011 | Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704817019 | Poikiloderma, alopecia, retrognathism, cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704818012 | PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705163018 | A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705164012 | A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405030016 | PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405031017 | PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Congenital retrognathism | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Poikiloderma (disorder) | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Bone structure of jaw (body structure) | true | Inferred relationship | Some | 2 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Poikiloderma | true | Inferred relationship | Some | 4 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Recession | true | Inferred relationship | Some | 5 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Bone structure of jaw (body structure) | true | Inferred relationship | Some | 5 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Posterior displacement | true | Inferred relationship | Some | 2 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 6 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)