Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498174017 | Robin sequence with cleft mandible and limb anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498175016 | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3498176015 | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3498177012 | Richieri Costa Pereira syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403189010 | Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403190018 | Richieri Costa-Pereira syndrome is characterised by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. 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 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Robin sequence | true | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Cleft mandible | true | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Finding site | Bone structure of mandible | false | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 1 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)