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Terminology chevron_right Concepts chevron_right 771306007

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771306007
The component that hold information about this concept.
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)
Poiktmp 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

Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)

SCTID: 771306007, Primitive, Active


771306007|Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)|
  • vi Hội chứng da đốm xơ hóa, co rút gân, bệnh cơ, xơ phổi di truyền
  • en Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
  • en Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)
  • en Poiktmp (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome
  • en Poiktmp syndrome

771306007 |Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)|

<<< 413839001 |Chronic lung disease (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    238834002 |Hereditary sclerosing poikiloderma (disorder)| +
    51615001 |Fibrosis of lung (disorder)| +
    128236002 |Chronic disease of skin (disorder)| +
    363045008 |Connective tissue hereditary disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    128237006 |Chronic disease of musculoskeletal system (disorder)| +
    75047002 |Disorder of skeletal muscle (disorder)| +
    274141009 |Tendon contracture (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 13024002 |Tendon structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 112674009 |Fibrosis (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39607008 |Lung structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 70114006 |Poikiloderma (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
Active

535671000003119 - hội chứng da đốm xơ hóa, co rút gân, bệnh cơ, xơ phổi di truyền (vi) View

535671000003119
vi
Synonym (core metadata concept)
hội chứng da đốm xơ hóa, co rút gân, bệnh cơ, xơ phổi di truyền
900000000000448009 |Entire term case insensitive (core metadata concept)|
None
True

3705568017 - Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (en) View

3705568017
en
Synonym (core metadata concept)
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3705566018 - Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) (en) View

3705566018
en
Fully specified name (core metadata concept)
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3705567010 - POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome (en) View

3705567010
en
Synonym (core metadata concept)
POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3705565019 - POIKTMP syndrome (en) View

3705565019
en
Synonym (core metadata concept)
POIKTMP syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (9662602025) - 771306007 -> 17097001 (116680003) View

116680003 |Is a (attribute)|
17097001 |Chronic disease of respiratory system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12999221023) - 771306007 -> 413839001 (116680003) View

116680003 |Is a (attribute)|
413839001 |Chronic lung disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662610029) - 771306007 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662612021) - 771306007 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662598027) - 771306007 -> 39607008 (363698007) View

363698007 |Finding site (attribute)|
39607008 |Lung structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662599024) - 771306007 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662601021) - 771306007 -> 112674009 (116676008) View

116676008 |Associated morphology (attribute)|
112674009 |Fibrosis (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662603024) - 771306007 -> 238834002 (116680003) View

116680003 |Is a (attribute)|
238834002 |Hereditary sclerosing poikiloderma (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662605028) - 771306007 -> 51615001 (116680003) View

116680003 |Is a (attribute)|
51615001 |Fibrosis of lung (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662607020) - 771306007 -> 128236002 (116680003) View

116680003 |Is a (attribute)|
128236002 |Chronic disease of skin (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662608026) - 771306007 -> 363045008 (116680003) View

116680003 |Is a (attribute)|
363045008 |Connective tissue hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662609023) - 771306007 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662611025) - 771306007 -> 128237006 (116680003) View

116680003 |Is a (attribute)|
128237006 |Chronic disease of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662613027) - 771306007 -> 75047002 (116680003) View

116680003 |Is a (attribute)|
75047002 |Disorder of skeletal muscle (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9662614022) - 771306007 -> 274141009 (116680003) View

116680003 |Is a (attribute)|
274141009 |Tendon contracture (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10223833023) - 771306007 -> 57048009 (116676008) View

116676008 |Associated morphology (attribute)|
57048009 |Contracture (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10223838025) - 771306007 -> 13024002 (363698007) View

363698007 |Finding site (attribute)|
13024002 |Tendon structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10451983020) - 771306007 -> 70114006 (116676008) View

116676008 |Associated morphology (attribute)|
70114006 |Poikiloderma (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10451986028) - 771306007 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

413839001 View

413839001
Chronic lung disease (disorder)
Bệnh phổi mạn tính
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

274141009 View

274141009
Tendon contracture (disorder)
Co cứng gân
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363045008 View

363045008
Connective tissue hereditary disorder (disorder)
Connective tissue hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

51615001 View

51615001
Fibrosis of lung (disorder)
Xơ phổi
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

75047002 View

75047002
Disorder of skeletal muscle (disorder)
Disorder of muscle
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128236002 View

128236002
Chronic disease of skin (disorder)
Chronic dermatosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128237006 View

128237006
Chronic disease of musculoskeletal system (disorder)
Chronic musculoskeletal disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

238834002 View

238834002
Hereditary sclerosing poikiloderma (disorder)
Weary-kindler syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363212003 View

363212003
Hereditary disorder of musculoskeletal system (disorder)
Hereditary disorder of musculoskeletal system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (05d05aee-e927-577e-bdbf-b12dcdfe4d3f) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q82.8
TRUE
ALWAYS Q82.8 | 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