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 |
| 3317271014 | The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317272019 | The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402186011 | The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402187019 | The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317267011 | 2q23.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317268018 | 2q23.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317269014 | Monosomy 2q23.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317270010 | Pseudo-Angelman syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Is a | Anomaly of chromosome pair 2 | false | Inferred relationship | Some | ||
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Some | 2 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Some | 3 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 2 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Is a | Deletion of part of long arm of chromosome 2 (disorder) | true | Inferred relationship | Some | ||
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Finding site | Chromosome pair 2 (cell structure) | true | Inferred relationship | Some | 1 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 2 | |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR