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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
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 |
| 5402556012 | This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402557015 | This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322786013 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 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 | Only initial character 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 | Only initial character 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 |
| 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 |
| 5402556012 | This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402557015 | This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434591001000111 | Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 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 Switzerland NRC maintained 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 Switzerland NRC maintained Module |
| 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 Switzerland NRC maintained 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 Switzerland NRC maintained Module |
| 3434591001000111 | Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Lymphatic edema | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Osteopetrosis (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Severe combined immunodeficiency disease | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | X-linked hereditary disease | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Ectodermal dysplasia with sweating defect | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Hereditary lymphedema | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Hereditary disorder of the integument (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Has definitional manifestation | Immune system finding | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Ectoderm structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Bone structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Ectoderm structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Skin structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Chronic disease of skin | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Interprets | Osteoclast turnover rate | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Has interpretation | Abnormal | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Finding site | Limb structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)