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Terminology chevron_right Concepts chevron_right 362993009

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362993009
The component that hold information about this concept.
Autosomal recessive severe combined immunodeficiency disease (disorder)
Autosomal recessive scid
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Autosomal recessive severe combined immunodeficiency disease (disorder)

SCTID: 362993009, Defined, Active


362993009|Autosomal recessive severe combined immunodeficiency disease (disorder)|
  • en Autosomal recessive scid (severe combined immunodeficiency disease)
  • en Autosomal recessive severe combined immunodeficiency disease
  • en Autosomal recessive severe combined immunodeficiency disease (disorder)

362993009 |Autosomal recessive severe combined immunodeficiency disease (disorder)|

=== 31323000 |Severe combined immunodeficiency disease (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (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)| }
Active

482128017 - Autosomal recessive SCID (en) View

482128017
en
Synonym (core metadata concept)
Autosomal recessive SCID
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

5065843011 - Autosomal recessive SCID (severe combined immunodeficiency disease) (en) View

5065843011
en
Synonym (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

2914355014 - Autosomal recessive severe combined immunodeficiency disease (en) View

2914355014
en
Synonym (core metadata concept)
Autosomal recessive severe combined immunodeficiency disease
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2914598012 - Autosomal recessive severe combined immunodeficiency disease (disorder) (en) View

2914598012
en
Fully specified name (core metadata concept)
Autosomal recessive severe combined immunodeficiency disease (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

754767018 - Autosomal recessive SCID (disorder) (en) View

754767018
en
Fully specified name (core metadata concept)
Autosomal recessive SCID (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

Relationship (1785330029) - 362993009 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2740151024) - 362993009 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170103022) - 362993009 -> 769247005 (370135005) View

370135005 |Pathological process (attribute)|
769247005 |Abnormal immune process (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2740152028) - 362993009 -> 106182000 (363705008) View

363705008 |Has definitional manifestation (attribute)|
106182000 |Immune system finding (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2843719027) - 362993009 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (933175027) - 362993009 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (313472023) - 362993009 -> 363138005 (116680003) View

116680003 |Is a (attribute)|
363138005 |Hereditary disorder of immune system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (1690410025) - 362993009 -> 31323000 (116680003) View

116680003 |Is a (attribute)|
31323000 |Severe combined immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (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

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1371275005 View

1371275005
Autosomal recessive severe combined immunodeficiency due to dna polymerase delta 3, accessory subunit deficiency (disorder)
Autosomal recessive severe combined immunodeficiency due to dna pold3 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351209002 View

1351209002
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to cd3 delta subunit of t-cell receptor complex mutation (disorder)
Autosomal recessive t- b+ severe combined immunodeficiency due to cd3d mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351210007 View

1351210007
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to cd3 epsilon subunit of t-cell receptor complex mutation (disorder)
Autosomal recessive t- b+ severe combined immunodeficiency due to cd3e mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351211006 View

1351211006
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to cd3-zeta mutation (disorder)
Autosomal recessive t- b+ severe combined immunodeficiency due to cd3z mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351212004 View

1351212004
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to slp76 mutation (disorder)
Autosomal recessive t- b+ severe combined immunodeficiency due to slp76 mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1229940001 View

1229940001
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to il-7ralpha deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1229941002 View

1229941002
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type c deficiency (disorder)
Autosomal recessive t-cell negative, b-cell positive severe combined immunodeficiency due to cd45 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1229942009 View

1229942009
Severe combined immunodeficiency due to coronin 1a deficiency (disorder)
Severe combined immunodeficiency due to coro1a deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1179284005 View

1179284005
Severe combined immunodeficiency due to linker for activation of t cells deficiency (disorder)
Severe combined immunodeficiency due to lat deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

789777007 View

789777007
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)
Immunodeficiency, short limb dwarfism syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

782751003 View

782751003
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa b kinase subunit beta deficiency (disorder)
Severe combined immunodeficiency due to ikk2 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

783617001 View

783617001
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)
Severe combined immunodeficiency due to lck deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

763623001 View

763623001
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
Severe combined immunodeficiency due to ctps1 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

724177005 View

724177005
Ligase 4 syndrome (disorder)
Lig4 syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

724361001 View

724361001
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
Vodi syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

725135004 View

725135004
Combined immunodeficiency due to cd3gamma deficiency (disorder)
Combined immunodeficiency due to cd3gamma deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

725290000 View

725290000
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
Combined immunodeficiency due to partial rag1 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

720345008 View

720345008
Severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
Winged helix deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

720853005 View

720853005
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
Cernunnos-xlf deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

721977007 View

721977007
Lung fibrosis, immunodeficiency, 46,xx gonadal dysgenesis syndrome (disorder)
Lung fibrosis, immunodeficiency, 46,xx gonadal dysgenesis syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

722067005 View

722067005
Omenn syndrome (disorder)
Omenn syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

715982006 View

715982006
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)
Severe combined immunodeficiency athabascan type
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

716378008 View

716378008
Combined immunodeficiency due to zeta-chain associated protein kinase 70 deficiency (disorder)
Combined immunodeficiency due to zap70 deficiency
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

718107000 View

718107000
Severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency (disorder)
T-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

44940001 View

44940001
Adenosine deaminase deficiency (disorder)
Ada deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (5aee2ebe-ed2c-537d-8d46-c783ac4c3fbf) 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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