Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498434019 | Osteopenia, intellectual disability, sparse hair syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498435018 | Kaler Garrity Stern syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498436017 | Osteopenia, intellectual disability, sparse hair syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499922012 | A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5490621000241110 | syndrome d'ostéopénie, déficience intellectuelle et hypotrichose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Congenital anomaly of hair | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Osteopenia | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 5 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 6 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Osteopenia | false | Inferred relationship | Some | 4 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Osteopenia | true | Inferred relationship | Some | 2 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 4 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Osteopenia, intellectual disability, sparse hair syndrome (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