Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318554011 | Temtamy syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3318555012 | Temtamy Shalash syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3318559018 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3318560011 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Agenesis of corpus callosum | false | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Congenital anomaly of face bones | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Congenital anomaly of skull | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Congenital ocular coloboma | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 7 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 6 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Bone structure of cranium | false | Inferred relationship | Existential restriction modifier | 6 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Existential restriction modifier | 7 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Structure of eye proper | false | Inferred relationship | Existential restriction modifier | 7 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Bone structure of face | false | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Entire corpus callosum | false | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Developmental failure of fusion | false | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Structure of eye proper | false | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Structure of eye proper | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Bone structure of face | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Bone structure of cranium | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Associated morphology | Aplasia | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Partial agenesis of corpus callosum | false | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Finding site | Corpus callosum structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Aplasia of corpus callosum | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR