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Terminology chevron_right Concepts chevron_right 1228876007

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1228876007
The component that hold information about this concept.
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)
Interstitial lung and liver disease
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 early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)

SCTID: 1228876007, Primitive, Active


1228876007|Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)|
  • en Hereditary pulmonary alveolar proteinosis with hepatic involvement
  • en Interstitial lung and liver disease
  • en Pulmonary alveolar proteinosis reunion island type
  • en Severe early-onset pulmonary alveolar proteinosis due to mars deficiency
  • en Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency
  • en Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)

1228876007 |Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)|

<<< 10501004 |Pulmonary alveolar proteinosis (disorder)| +
    233703007 |Interstitial lung disease (disorder)| +
    363045008 |Connective tissue hereditary disorder (disorder)| +
    363137000 |Hereditary disorder by system (disorder)| +
    413839001 |Chronic lung disease (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49247009 |Protein deposition (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 113253006 |Pulmonary alveolar structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113254000 |Structure of interstitial tissue of lung (body structure)| }
Active

5063566016 - Hereditary pulmonary alveolar proteinosis with hepatic involvement (en) View

5063566016
en
Synonym (core metadata concept)
Hereditary pulmonary alveolar proteinosis with hepatic involvement
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5063565017 - Interstitial lung and liver disease (en) View

5063565017
en
Synonym (core metadata concept)
Interstitial lung and liver disease
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5063567013 - Pulmonary alveolar proteinosis Reunion island type (en) View

5063567013
en
Synonym (core metadata concept)
Pulmonary alveolar proteinosis Reunion island type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5063564018 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (en) View

5063564018
en
Synonym (core metadata concept)
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5063562019 - Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (en) View

5063562019
en
Synonym (core metadata concept)
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5063561014 - Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) (en) View

5063561014
en
Fully specified name (core metadata concept)
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (15212091020) - 1228876007 -> 10501004 (116680003) View

116680003 |Is a (attribute)|
10501004 |Pulmonary alveolar proteinosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212092029) - 1228876007 -> 233703007 (116680003) View

116680003 |Is a (attribute)|
233703007 |Interstitial lung disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212093023) - 1228876007 -> 363045008 (116680003) View

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

Relationship (15212094028) - 1228876007 -> 363137000 (116680003) View

116680003 |Is a (attribute)|
363137000 |Hereditary disorder by system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212095027) - 1228876007 -> 413839001 (116680003) View

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

Relationship (15212096026) - 1228876007 -> 85995004 (116680003) View

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

Relationship (15212097024) - 1228876007 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212098025) - 1228876007 -> 113254000 (363698007) View

363698007 |Finding site (attribute)|
113254000 |Structure of interstitial tissue of lung (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212099022) - 1228876007 -> 113253006 (363698007) View

363698007 |Finding site (attribute)|
113253006 |Pulmonary alveolar structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15212100025) - 1228876007 -> 49247009 (116676008) View

116676008 |Associated morphology (attribute)|
49247009 |Protein deposition (morphologic abnormality)|
1
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

10501004 View

10501004
Pulmonary alveolar proteinosis (disorder)
Alveolar proteinosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

233703007 View

233703007
Interstitial lung disease (disorder)
Bệnh phổi kẽ
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

85995004 View

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

363137000 View

363137000
Hereditary disorder by system (disorder)
Hereditary disorder by system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (a8a6047f-aa2b-5fee-aa63-c94f0ff4b8b3) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
J84.0
TRUE
ALWAYS J84.0 | 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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