Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3310437018 | Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3310439015 | Cloverleaf skull with multiple congenital anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3310440018 | This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Entire limb | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of coronal suture of skull | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of lambdoid suture of skull | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of sagittal suture of skull | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Cloverleaf skull syndrome | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Face structure | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome | Finding site | Entire limb | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set