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 |
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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401588019 | This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401589010 | This newly described syndrome is characterised by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3310437018 | Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310439015 | Cloverleaf skull with multiple congenital anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Cloverleaf skull syndrome (disorder) | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 8 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 8 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 9 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 9 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 10 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 10 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | dysgenese | false | Inferred relationship | Some | 11 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Face structure | false | Inferred relationship | Some | 11 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 7 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 7 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Entire limb | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of sagittal suture of skull | true | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 3 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Entire limb | true | Inferred relationship | Some | 3 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Congenital deformity | false | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of lambdoid suture of skull | true | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Premature fusion | true | Inferred relationship | Some | 4 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Finding site | Structure of coronal suture of skull | true | Inferred relationship | Some | 5 | |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. | Associated morphology | Premature fusion | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)