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Terminology chevron_right Concepts chevron_right 771515001

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771515001
The component that hold information about this concept.
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)
Fils syndrome
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

Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)

SCTID: 771515001, Primitive, Active


771515001|Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)|
  • en Fils (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
  • en Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
  • en Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)
  • en Fils syndrome

771515001 |Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)|

<<< 399982001 |Congenital vascular disorder (disorder)| +
    65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363138005 |Hereditary disorder of immune system (disorder)| +
    442459007 |Combined immunodeficiency disease (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    111474003 |Disorder involving the integument of fetus or newborn (disorder)| +
    238772004 |Livedo reticularis (disorder)| +
    237836003 |Short stature disorder (disorder)| +
    363005004 |Cardiovascular system hereditary disorder (disorder)| +
    363185004 |Hereditary disorder of the integument (disorder)| +
    36138009 |Congenital immunodeficiency disease (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)| = 397018003 |Blood vessel structure of skin (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
Active

3706581019 - FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome (en) View

3706581019
en
Synonym (core metadata concept)
FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
False

3780948015 - FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome (en) View

3780948015
en
Synonym (core metadata concept)
FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3706582014 - Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (en) View

3706582014
en
Synonym (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3706583016 - Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) (en) View

3706583016
en
Fully specified name (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3706580018 - FILS syndrome (en) View

3706580018
en
Synonym (core metadata concept)
FILS syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (10511809026) - 771515001 -> 254778000 (116680003) View

116680003 |Is a (attribute)|
254778000 |Congenital livedo reticularis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16418586026) - 771515001 -> 111474003 (116680003) View

116680003 |Is a (attribute)|
111474003 |Disorder involving the integument of fetus or newborn (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16418587024) - 771515001 -> 238772004 (116680003) View

116680003 |Is a (attribute)|
238772004 |Livedo reticularis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16418588025) - 771515001 -> 399982001 (116680003) View

116680003 |Is a (attribute)|
399982001 |Congenital vascular disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069962021) - 771515001 -> 363070008 (116680003) View

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

Relationship (13280635029) - 771515001 -> 271603002 (363714003) View

363714003 |Interprets (attribute)|
271603002 |Height / growth measure (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170056022) - 771515001 -> 769247005 (370135005) View

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

Relationship (10511799026) - 771515001 -> 237836003 (116680003) View

116680003 |Is a (attribute)|
237836003 |Short stature disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511800027) - 771515001 -> 89545001 (363698007) View

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

Relationship (10511801028) - 771515001 -> 363005004 (116680003) View

116680003 |Is a (attribute)|
363005004 |Cardiovascular system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511802024) - 771515001 -> 363185004 (116680003) View

116680003 |Is a (attribute)|
363185004 |Hereditary disorder of the integument (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511803025) - 771515001 -> 397018003 (363698007) View

363698007 |Finding site (attribute)|
397018003 |Blood vessel structure of skin (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511804020) - 771515001 -> 36138009 (116680003) View

116680003 |Is a (attribute)|
36138009 |Congenital immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511805021) - 771515001 -> 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 (10511806022) - 771515001 -> 255399007 (246454002) View

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

Relationship (10511807029) - 771515001 -> 85995004 (116680003) View

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

Relationship (10511808023) - 771515001 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10511810020) - 771515001 -> 363138005 (116680003) View

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

Relationship (10511812028) - 771515001 -> 442459007 (116680003) View

116680003 |Is a (attribute)|
442459007 |Combined immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10537739026) - 771515001 -> 308490002 (370135005) View

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

Relationship (10537740029) - 771515001 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
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

111474003 View

111474003
Disorder involving the integument of fetus or newborn (disorder)
Perinatal dermatological disorders
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

442459007 View

442459007
Combined immunodeficiency disease (disorder)
Combined immunodeficiency disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

399982001 View

399982001
Congenital vascular disorder (disorder)
Congenital vascular disorder
900000000000073002 |Sufficiently defined by necessary conditions 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

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

85995004 View

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

237836003 View

237836003
Short stature disorder (disorder)
Dwarf
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238772004 View

238772004
Livedo reticularis (disorder)
Livedo racemosa
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363005004 View

363005004
Cardiovascular system hereditary disorder (disorder)
Cardiovascular system hereditary disorder
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

363185004 View

363185004
Hereditary disorder of the integument (disorder)
Hereditary disorder of the integument
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (e25cdadd-c142-5ba8-9f68-f36e080f534c) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.1
TRUE
ALWAYS Q87.1 | 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)|
esc