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 |
| 3326196012 | A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance. | 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 |
This concept is not in any reference sets
FHIR