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 |
3331447019 | Distal limb deficiency with micrognathia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332024011 | Distal limb deficiency with micrognathia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332025012 | 10q24 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332026013 | Buttiens Fryns syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3332027016 | Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | 10q partial trisomy syndrome | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 6 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | false | Inferred relationship | Some | 6 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Entire limb | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Partial trisomy | false | Inferred relationship | Some | 5 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Chromosome pair 10 (cell structure) | false | Inferred relationship | Some | 5 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 2 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 1 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 3 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Entire limb | true | Inferred relationship | Some | 2 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Chromosome pair 10 (cell structure) | true | Inferred relationship | Some | 3 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Distal limb deficiency with micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Distal limb deficiency with micrognathia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets