Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1008501000172115 | dysplasie fronto-nasale liée à ALX1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3724878013 | Frontonasal dysplasia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724879017 | ALX1-related frontonasal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724880019 | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724881015 | ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724882010 | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
771701000241115 | syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
956041000172113 | syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3724883017 | A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | fente palatine | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Microphthalmos | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | localisation d'une constatation (attribut) | Entire eye | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Frontonasal dysplasia sequence | true | Inferred relationship | Some | ||
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets