Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3330754017 | Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330755016 | Osteoporosis and oculocutaneous hypopigmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330756015 | Hernandez Fragoso syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330757012 | Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
891401000172114 | OOCHS - osteoporosis, oculocutaneous hypopigmentation syndrome | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
956191000172118 | syndrome d'ostéoporose-hypopigmentation oculocutanée | 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 |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Congenital oculocutaneous hypopigmentation | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Congenital hypopigmentation | false | Inferred relationship | Some | 4 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Congenital hypopigmentation | false | Inferred relationship | Some | 5 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 6 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Eye structure | false | Inferred relationship | Some | 4 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Hypopigmentation | true | Inferred relationship | Some | 2 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Hypopigmentation | true | Inferred relationship | Some | 1 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 4 | |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets