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 |
| 3326189010 | Hypertelorism with microtia and facial clefting syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326190018 | Hypertelorism with microtia and facial clefting syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326197015 | Bixler Christian Gorlin syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3326198013 | HMC (hypertelorism, microtia, clefting) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402698019 | Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402699010 | Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterised by the combination of hypertelorism, cleft lip and palate and microtia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Hypertelorism | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Microtia | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 7 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 7 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Sphenoid bone structure | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Sphenoid bone structure | true | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 6 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | External ear structure | false | Inferred relationship | Some | 6 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 2 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 3 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | External ear structure | true | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hypertelorism with microtia and facial clefting syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR