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 |
| 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 |
| 6112051000146113 | anhidrotische ectodermale dysplasie-immuundeficiëntie-osteopetrose-lymfoedeem-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6112071000146117 | OL-EDA-ID-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6674521000146112 | syndroom van anhidrotische ectodermale dysplasie, immunodeficiëntie, osteopetrose en lymfoedeem | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6674531000146114 | syndroom van anhidrotische ectodermale dysplasie, immunodeficiëntie, osteopetrose en lymfoedeem (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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 |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | Lymphatic edema | true | Inferred relationship | Some | 4 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Osteopetrosis | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Severe combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Ectodermal dysplasia with sweating defect | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Hereditary lymphedema | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 7 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 7 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 7 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Chronic disease of skin | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Interprets | Osteoclast turnover rate | true | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 6 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 8 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 8 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 4 | |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR