Status: current, Not 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 |
| 3662496013 | Nijmegen breakage syndrome-like disorder (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662497016 | Nijmegen breakage syndrome-like disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662498014 | NBS-like (Nijmegen breakage syndrome-like) disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662499018 | Microcephaly and chromosomal instability without immunodeficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662500010 | RAD50 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662501014 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionising radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662502019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4148101000052111 | Nijmegen-syndromliknande sjukdom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | mikrocefali | false | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 2 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Nijmegen breakage syndrome-like disorder (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Nijmegen breakage syndrome-like disorder (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR