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 | Active | 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 | 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 |
This concept is not in any reference sets