Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498728013 | Microcephalus, digital anomaly, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498729017 | Microcephalus, digital anomaly, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498730010 | Kelly Kirson Wyatt syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3499969019 | Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). 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 |
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Congenital anomaly of digit (disorder) | false | Inferred relationship | Some | ||
| Microcephalus, digital anomaly, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Finding site | Digit structure | false | Inferred relationship | Some | 2 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Microcephalus, digital anomaly, intellectual disability syndrome | Is a | Intellectual disability | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR