Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 201251014 | Recessive hereditary disorder (autosomal) | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 201252019 | Hereditary disorder trait (autosomal) | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 201253012 | Autosomal recessive hereditary disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 828165010 | Autosomal recessive hereditary disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2599051000052111 | autosomalt recessiv ärftlig sjukdom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hereditary disorder | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Galactose epimerase deficiency | Is a | True | Autosomal recessive hereditary disorder | Inferred relationship | Some | |
| Deficiency of galactokinase (disorder) | Is a | True | Autosomal recessive hereditary disorder | Inferred relationship | Some | |
| Fanconi anemia of complementation group C | Is a | True | Autosomal recessive hereditary disorder | Inferred relationship | Some | |
| Spondyloepimetaphyseal dysplasia with joint laxity Beighton type | Is a | True | Autosomal recessive hereditary disorder | Inferred relationship | Some | |
| Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) | Is a | True | Autosomal recessive hereditary disorder | Inferred relationship | Some |
This concept is not in any reference sets
FHIR