FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

442459007: Combined immunodeficiency disease (disorder)

Status: current, Primitive. Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2819524017 Combined immunodeficiency disease en Synonym Active Case insensitive SNOMED CT core
2819525016 Combined immunodeficiency disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

89 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency disease Pathological process Abnormal immune process true Inferred relationship Some 1
Combined immunodeficiency disease Is a Primary immune deficiency disorder true Inferred relationship Some
Combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Combined immunodeficiency due to STK4 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to MALT1 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
RIDDLE syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Pancytopenia due to IKZF1 mutations Is a True Combined immunodeficiency disease Inferred relationship Some
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection Is a True Combined immunodeficiency disease Inferred relationship Some
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with granulomatosis Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to interleukin 21 receptor deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Hennekam syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to moesin deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to GINS1 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to TFRC deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
BENTA disease Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to ITK deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to DOCK8 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to LRBA deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a True Combined immunodeficiency disease Inferred relationship Some
DOCK2 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Benign combined immunodeficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency disease Is a True Combined immunodeficiency disease Inferred relationship Some
Vici syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction Is a True Combined immunodeficiency disease Inferred relationship Some
Immuno-osseous dysplasia Is a True Combined immunodeficiency disease Inferred relationship Some
Laron syndrome with immunodeficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive lymphoproliferative disease Is a True Combined immunodeficiency disease Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start