Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5408223018 | Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5408224012 | Autosomal recessive combined immunodeficiency with multiple intestinal atresias | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5408225013 | Combined immunodeficiency due to TTC7A mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5408233014 | Multiple intestinal atresia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5408234015 | Familial intestinal polyatresia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Congenital anomaly of gastrointestinal tract | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Congenital immunodeficiency disease | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Combined immunodeficiency disease | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 2 | |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Finding site | Gastrointestinal tract structure | false | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Associated morphology | Atresia (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
SAME AS association reference set (foundation metadata concept)
FHIR