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 |
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 |
751501000241110 | syndrome de crâne en trèfle-anomalies congénitales multiples (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
950861000172118 | syndrome de crâne en trèfle-anomalies congénitales multiples | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of sagittal suture of skull | false | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Abnormally short growth | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Entire limb | true | Inferred relationship | Some | 3 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of coronal suture of skull | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | false | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | true | Inferred relationship | Some | 1 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lambdoid suture of skull | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | true | Inferred relationship | Some | 4 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of sagittal suture of skull | true | Inferred relationship | Some | 5 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Cloverleaf skull syndrome | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Joint structure of suture of skull | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lambdoid suture of skull | false | Inferred relationship | Some | 8 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of sagittal suture of skull | false | Inferred relationship | Some | 9 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Joint structure of suture of skull | false | Inferred relationship | Some | 10 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 11 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Structure of coronal suture of skull | false | Inferred relationship | Some | 7 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | morphologie associée (attribut) | Abnormally short growth | false | Inferred relationship | Some | 6 | |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Entire limb | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets