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Terminology chevron_right Concepts chevron_right 31323000

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Component

31323000

The component that hold information about this concept.

Fully Specified Name (FSN)

Severe combined immunodeficiency disease (disorder)

Shortest Term

Scid

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Severe combined immunodeficiency disease (disorder)

SCTID: 31323000, Primitive, Active

31323000|Severe combined immunodeficiency disease (disorder)|

en Scid - severe combined immunodeficiency
en Severe combined immunodeficiency
en Severe combined immunodeficiency disease
en Severe combined immunodeficiency disease (disorder)
en Combined t-cell and b-cell immunodeficiency

Expression

31323000 |Severe combined immunodeficiency disease (disorder)|
 <<< 36138009 |Congenital immunodeficiency disease (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
442459007 |Combined immunodeficiency disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91689009 |Body system structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
52385018 - SCID (en) View
52385018	en	Synonym (core metadata concept)	SCID	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244230016 - SCID - severe combined immunodeficiency (en) View
5244230016	en	Synonym (core metadata concept)	SCID - severe combined immunodeficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
484841016 - SCID - Severe combined immunodeficiency (en) View
484841016	en	Synonym (core metadata concept)	SCID - Severe combined immunodeficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
484842011 - Severe combined immunodeficiency (en) View
484842011	en	Synonym (core metadata concept)	Severe combined immunodeficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
52382015 - Severe combined immunodeficiency disease (en) View
52382015	en	Synonym (core metadata concept)	Severe combined immunodeficiency disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
762432015 - Severe combined immunodeficiency disease (disorder) (en) View
762432015	en	Fully specified name (core metadata concept)	Severe combined immunodeficiency disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
484843018 - Combined T-cell and B-cell immunodeficiency (en) View
484843018	en	Synonym (core metadata concept)	Combined T-cell and B-cell immunodeficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
52384019 - SCID, NOS (en) View
52384019	en	Synonym (core metadata concept)	SCID, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
52383013 - Severe combined immunodeficiency disease, NOS (en) View
52383013	en	Synonym (core metadata concept)	Severe combined immunodeficiency disease, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (750207024) - 31323000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2731150025) - 31323000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170007021) - 31323000 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2731151026) - 31323000 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (198952029) - 31323000 -> 58606001 (116680003) View
116680003 \|Is a (attribute)\|	58606001 \|Primary immune deficiency disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3576050021) - 31323000 -> 442459007 (116680003) View
116680003 \|Is a (attribute)\|	442459007 \|Combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (750206026) - 31323000 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (750208025) - 31323000 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1672782027) - 31323000 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (198951020) - 31323000 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
442459007 View
442459007	Combined immunodeficiency disease (disorder)	Combined immunodeficiency disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1335927007 View
1335927007	T-cell negative b-cell positive severe combined immunodeficiency (disorder)	T-cell negative b-cell positive severe combined immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720986005 View
720986005	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716871006 View
716871006	Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)	Severe combined immunodeficiency due to dna-pkcs deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
362993009 View
362993009	Autosomal recessive severe combined immunodeficiency disease (disorder)	Autosomal recessive scid	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
3439009 View
3439009	Severe combined immunodeficiency due to absent peripheral t cell maturation (disorder)	Scid due to absent peripheral t cell maturation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22406001 View
22406001	Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)	Swiss type agammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36980009 View
36980009	Severe combined immunodeficiency due to absent adenosine deaminase (disorder)	Scid due to absent ada	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45390000 View
45390000	Severe combined immunodeficiency due to absent interleukin-2 production (disorder)	Scid due to absent il-2 production	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
49555001 View
49555001	Severe combined immunodeficiency due to absent t cell receptor (disorder)	Scid due to absent t cell receptor	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
55602000 View
55602000	Nezelof's syndrome (disorder)	Nezelof syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111587007 View
111587007	Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)	Scid due to absent il-2 receptor	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190997006 View
190997006	Severe combined immunodeficiency with low t- and b-cell numbers (disorder)	Severe combined immunodeficiency with low t- and b-cell numbers	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190998001 View
190998001	Severe combined immunodeficiency with low or normal b-cell numbers (disorder)	Severe combined immunodeficiency with low or normal b-cell numbers	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234570002 View
234570002	Severe combined immunodeficiency with maternofetal engraftment (disorder)	Severe combined immunodeficiency with maternofetal engraftment	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234571003 View
234571003	Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)	Warts, hypogammaglobulinemia, infections, and myelokathexis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (e70c683a-f021-5ca9-9c18-6fa19b564b6a) 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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