442459007 | View Concept | SNOMED CT

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2819524017 - Combined immunodeficiency disease (en) View
2819524017	en	Synonym (core metadata concept)	Combined immunodeficiency disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2819525016 - Combined immunodeficiency disease (disorder) (en) View
2819525016	en	Fully specified name (core metadata concept)	Combined immunodeficiency disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11172265028) - 442459007 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3603350027) - 442459007 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3575668026) - 442459007 -> 58606001 (116680003) View
116680003 \|Is a (attribute)\|	58606001 \|Primary immune deficiency disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
58606001 View
58606001	Primary immune deficiency disorder (disorder)	Primary immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1371048007 View
1371048007	Congenital neutropenia, combined immunodeficiency due to mkl1 deficiency (disorder)	Mkl1-related neutrophil motility defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1363572000 View
1363572000	Combined immunodeficiency due to forkhead box n1 haploinsufficiency (disorder)	Combined immunodeficiency due to foxn1 haploinsufficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1354649003 View
1354649003	Autosomal recessive deoxyribonucleic acid repair defect due to dna ligase 1 deficiency (disorder)	Autosomal recessive dna repair defect due to lig1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1354858008 View
1354858008	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder)	Scbms (seizures, cortical blindness, microcephaly syndrome) with combined immunodeficiency due to diaph1 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1354861009 View
1354861009	Lung disease, immunodeficiency, chromosome breakage syndrome (disorder)	Lics syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351776006 View
1351776006	Autosomal recessive combined immunodeficiency due to wiskott aldrich syndrome protein-interacting protein deficiency (disorder)	Autosomal recessive combined immunodeficiency due to wip deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351778007 View
1351778007	Autosomal recessive combined immunodeficiency due to arp2/3-mediated filament branching defect (disorder)	Autosomal recessive combined immunodeficiency due to arpc1b mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351779004 View
1351779004	Autosomal dominant combined immunodeficiency due to signal transducer and activator of transcription 5b mutation (disorder)	Autosomal dominant combined immunodeficiency due to stat5b mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351780001 View
1351780001	Autosomal recessive combined immunodeficiency due to rel proto-oncogene nf-kappa-b subunit mutation (disorder)	Autosomal recessive combined immunodeficiency due to rel mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351781002 View
1351781002	Autosomal recessive combined immunodeficiency due to bcl10 immune signaling adaptor mutation (disorder)	Autosomal recessive combined immunodeficiency due to bcl10 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351800009 View
1351800009	Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa b kinase complex mutation (disorder)	Autosomal recessive combined immunodeficiency due to chuk mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351801008 View
1351801008	Combined immunodeficiency due to ikaros family zinc finger 2 mutation (disorder)	Combined immunodeficiency due to ikzf2 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351802001 View
1351802001	Autosomal recessive combined immunodeficiency due to inositol-trisphosphate 3-kinase b mutation (disorder)	Autosomal recessive combined immunodeficiency due to itpkb mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351804000 View
1351804000	Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder)	Autosomal recessive combined immunodeficiency due to pax1 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351892007 View
1351892007	Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder)	Combined immunodeficiency due to card11 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351946008 View
1351946008	Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2b member 2 mutation (disorder)	Autosomal recessive combined immunodeficiency due to man2b2 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1354597009 View
1354597009	Autosomal recessive deoxyribonucleic acid repair defect due to dna polymerase epsilon 2, accessory subunit deficiency (disorder)	Autosomal recessive dna repair defect due to pole2 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
191009009 View
191009009	Hyperimmunoglobulin e syndrome	Hyper-ige syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351236000 View
1351236000	Autosomal recessive combined immunodeficiency due to inducible t cell costimulator deficiency (disorder)	Autosomal recessive combined immunodeficiency due to icos deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351245004 View
1351245004	Autosomal recessive combined immunodeficiency due to inducible t-cell costimulator ligand deficiency (disorder)	Autosomal recessive combined immunodeficiency due to icoslg deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351332001 View
1351332001	Autosomal recessive combined immunodeficiency due to dna polymerase delta 1 catalytic subunit mutation (disorder)	Autosomal recessive combined immunodeficiency due to pold1 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351333006 View
1351333006	Autosomal recessive combined immunodeficiency due to dna polymerase delta 2 accessory subunit mutation (disorder)	Autosomal recessive combined immunodeficiency due to pold2 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351341006 View
1351341006	Autosomal recessive combined immunodeficiency due to minichromosome maintenance complex component 10 deficiency (disorder)	Autosomal recessive dna repair defect due to mcm10 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351650004 View
1351650004	Autosomal recessive combined immunodeficiency due to relb proto-oncogene, nf-kb subunit mutation (disorder)	Autosomal recessive combined immunodeficiency due to relb mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351651000 View
1351651000	X-linked combined immunodeficiency due to sam and sh3 domain containing 3 deficiency (disorder)	X-linked combined immunodeficiency due to sash3 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351652007 View
1351652007	Autosomal recessive combined immunodeficiency due to copi coat complex subunit gamma 1 deficiency (disorder)	Autosomal recessive combined immunodeficiency due to copg1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351727000 View
1351727000	Autosomal recessive combined immunodeficiency due to cd28 molecule mutation (disorder)	Autosomal recessive combined immunodeficiency due to cd28 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1350218008 View
1350218008	Autosomal dominant combined immunodeficiency due to aiolos deficiency (disorder)	Autosomal dominant combined immunodeficiency due to ikzf3 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1340041000 View
1340041000	Combined immunodeficiency due to fch and mu domain containing endocytic adaptor 1 deficiency (disorder)	Combined immunodeficiency due to fcho1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1340174002 View
1340174002	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)	Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1336027001 View
1336027001	Combined immunodeficiency due to rela haploinsufficiency (disorder)	Combined immunodeficiency due to rela haploinsufficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222681008 View
1222681008	Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)	Tripeptidyl-peptidase ii deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197205005 View
1197205005	Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder)	Dock8 immunodeficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197428008 View
1197428008	Combined immunodeficiency, enteropathy spectrum (disorder)	Combined immunodeficiency due to ttc7a mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197477000 View
1197477000	Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder)	Combined immunodeficiency due to lrba deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197478005 View
1197478005	Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder)	Nik deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197479002 View
1197479002	Dedicator of cytokinesis 2 deficiency (disorder)	Dock2 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186712009 View
1186712009	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)	Combined immunodeficiency due to rltpr deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186714005 View
1186714005	Combined immunodeficiency due to interleukin-2 inducible t cell kinase deficiency (disorder)	Combined immunodeficiency due to itk deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186715006 View
1186715006	Combined immunodeficiency due to cd70 deficiency (disorder)	Combined immunodeficiency due to cd70 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179285006 View
1179285006	Combined immunodeficiency due to moesin deficiency (disorder)	X-linked moesin-associated immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179286007 View
1179286007	Combined immunodeficiency due to gins complex subunit 1 deficiency (disorder)	Combined immunodeficiency due to gins1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179288008 View
1179288008	Combined immunodeficiency due to transferrin receptor deficiency (disorder)	Combined immunodeficiency due to tfrc deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179300002 View
1179300002	B-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease (disorder)	Benta disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
829973009 View
829973009	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782750002 View
782750002	T-cell receptor alpha-beta-positive t-cell deficiency (disorder)	T-cell receptor alpha-beta-positive t-cell deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783099001 View
783099001	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)	Riddle syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783142006 View
783142006	Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)	Pancytopenia due to ikzf1 mutations	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783248004 View
783248004	Hyperimmunoglobulin m syndrome with susceptibility to opportunistic infection (disorder)	Hyper-igm syndrome with susceptibility to opportunistic infections	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783249007 View
783249007	Hyperimmunoglobulin m syndrome without susceptibility to opportunistic infection (disorder)	Hyper-igm syndrome without susceptibility to opportunistic infections	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783743009 View
783743009	Combined immunodeficiency with granulomatosis (disorder)	Combined immunodeficiency with granulomatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784340000 View
784340000	Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)	Combined immunodeficiency due to il21r deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770625006 View
770625006	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Roifman chitayat syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771309000 View
771309000	Autosomal recessive lymphoproliferative disease (disorder)	Autosomal recessive lymphoproliferative disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771479000 View
771479000	Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder)	Combined immunodeficiency due to stk4 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771515001 View
771515001	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)	Fils syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773488000 View
773488000	Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)	Combined immunodeficiency due to malt1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774211005 View
774211005	Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder)	Sam syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766879006 View
766879006	Combined immunodeficiency due to ox40 deficiency (disorder)	Combined immunodeficiency due to ox40 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766983005 View
766983005	Susceptibility to respiratory infection associated with cd8alpha chain mutation (disorder)	Familial cd8 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724179008 View
724179008	Laron syndrome with immunodeficiency (disorder)	Laron-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724275005 View
724275005	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Primary immunodeficiency due to mcm4 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725136003 View
725136003	Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)	Bare lymphocyte syndrome type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717811007 View
717811007	Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder)	Combined immunodeficiency due to crac channel dysfunction	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719685004 View
719685004	Absent thumb with short stature and immunodeficiency syndrome (disorder)	Absent thumb with short stature and immunodeficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719824001 View
719824001	Vici syndrome (disorder)	Vici syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
31323000 View
31323000	Severe combined immunodeficiency disease (disorder)	Scid	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
191002000 View
191002000	Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)	Bare lymphocyte syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234146006 View
234146006	Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Hennekam syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234572005 View
234572005	Benign combined immunodeficiency (disorder)	Benign combined immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254067002 View
254067002	Immuno-osseous dysplasia (disorder)	Immuno-osseous dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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ExtendedMap object (94e23b94-f477-5755-9249-c1c6e0188ef5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.9	TRUE	ALWAYS D81.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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