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 |
3725566013 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725567016 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725568014 | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725569018 | A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725570017 | A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725566013 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725567016 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725568014 | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725569018 | A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725570017 | A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3417471001000110 | Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
950151000172112 | syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1014531000172118 | syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
950151000172112 | syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1014531000172118 | syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3417471001000110 | Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets