Status: current, 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 |
3736335017 | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736336016 | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
881911000172119 | syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1005611000172112 | colobomateuze microftalmie, obesitas, hypogenitalisme, intellectuele achterstand-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 2 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Finding site | Entire eye | true | Inferred relationship | Some | 2 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Microphthalmos co-occurrent with congenital ocular coloboma (disorder) | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 4 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Central obesity | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Congenital anomaly of endocrine gonad (disorder) | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Finding site | Eye structure | true | Inferred relationship | Some | 3 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 4 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets