Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3658966016 | Ring chromosome 7 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658967013 | Ring chromosome 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658968015 | Ring chromosome 7 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3664251019 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3664252014 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (naevus flammeus, dark pigmented naevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 870631000172118 | syndrome du chromosome 7 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 873751000172110 | chromosome 7 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 982891000172116 | ring 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 986811000172110 | ringchromosoom 7 syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 7 syndrome (disorder) | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 7 syndrome (disorder) | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 7 syndrome (disorder) | Is a | Anomaly of chromosome pair 7 | true | Inferred relationship | Some | ||
| Ring chromosome 7 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 7 syndrome (disorder) | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 7 syndrome (disorder) | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 7 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 7 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR