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 |
| 1014181000172113 | syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3322786013 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322787016 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322788014 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322789018 | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322790010 | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 756791000241115 | syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 988641000172112 | OL-EDA-ID - anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3322791014 | This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322792019 | This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 7 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | maladie chronique de la peau | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | maladie chronique de la fonction immunitaire | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | interprète (attribut) | Osteoclast turnover rate (observable entity) | true | Inferred relationship | Some | 5 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 6 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 8 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | interprète (attribut) | Sweating, function (observable entity) | true | Inferred relationship | Some | 8 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | structure d'un membre | true | Inferred relationship | Some | 4 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | Lymphatic oedema | true | Inferred relationship | Some | 4 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Osteopetrosis | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Severe combined immunodeficiency disease | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Ectodermal dysplasia with sweating defect | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | lymphœdème héréditaire | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 6 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR