Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4635272012 | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635273019 | Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635274013 | Takenouchi Kosaki syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4635275014 | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635276010 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4635277018 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Megakaryocytic thrombocytopenia | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | lymphœdème héréditaire | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Congenital thrombocytopenia (disorder) | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | morphologie associée (attribut) | Lymphatic oedema | false | Inferred relationship | Some | 5 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | interprète (attribut) | Hemostatic function (observable entity) | true | Inferred relationship | Some | 3 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 3 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | interprète (attribut) | Platelet count | true | Inferred relationship | Some | 4 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | localisation d'une constatation (attribut) | structure d'un système corporel | true | Inferred relationship | Some | 6 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | localisation d'une constatation (attribut) | structure d'un membre | true | Inferred relationship | Some | 2 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 2 | |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | morphologie associée (attribut) | Lymphatic oedema | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets