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Terminology chevron_right Concepts chevron_right 720853005

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720853005
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)

SCTID: 720853005, Primitive, Active


720853005|Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)|
  • en Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
  • en Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
  • en Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
  • en Cernunnos-xlf deficiency
  • en Nhej1 (non-homologous end joining factor) syndrome
  • en Severe combined immunodeficiency due to cernunnos protein deficiency

720853005 |Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    190997006 |Severe combined immunodeficiency with low t- and b-cell numbers (disorder)| +
    362993009 |Autosomal recessive severe combined immunodeficiency disease (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

3322292018 - Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome (en) View

3322292018
en
Synonym (core metadata concept)
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322291013 - Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (en) View

3322291013
en
Synonym (core metadata concept)
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322290014 - Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) (en) View

3322290014
en
Fully specified name (core metadata concept)
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322293011 - Cernunnos-XLF deficiency (en) View

3322293011
en
Synonym (core metadata concept)
Cernunnos-XLF deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3322296015 - NHEJ1 (non-homologous end joining factor) syndrome (en) View

3322296015
en
Synonym (core metadata concept)
NHEJ1 (non-homologous end joining factor) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3322294017 - Severe combined immunodeficiency due to Cernunnos protein deficiency (en) View

3322294017
en
Synonym (core metadata concept)
Severe combined immunodeficiency due to Cernunnos protein deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (13069273021) - 720853005 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170005029) - 720853005 -> 769247005 (370135005) View

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

Relationship (6687803020) - 720853005 -> 116003000 (363698007) View

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

Relationship (6687805029) - 720853005 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6687806028) - 720853005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6687807021) - 720853005 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10526497028) - 720853005 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10526498022) - 720853005 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10526499025) - 720853005 -> 255399007 (246454002) View

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

Relationship (10526500023) - 720853005 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10526501022) - 720853005 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10526502026) - 720853005 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6687804025) - 720853005 -> 106182000 (363705008) View

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

Relationship (6687800023) - 720853005 -> 65094009 (116680003) View

116680003 |Is a (attribute)|
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6687801022) - 720853005 -> 190997006 (116680003) View

116680003 |Is a (attribute)|
190997006 |Severe combined immunodeficiency with low t- and b-cell numbers (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6687802026) - 720853005 -> 362993009 (116680003) View

116680003 |Is a (attribute)|
362993009 |Autosomal recessive severe combined immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions 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

65094009 View

65094009
Multiple malformation syndrome with facial defects as major feature (disorder)
Multiple malformation syndrome with facial defects as major feature
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

ExtendedMap object (bc7e3880-1a14-5d96-a504-722b80ab3ea8) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D81.1
TRUE
ALWAYS D81.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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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