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Terminology chevron_right Concepts chevron_right 719172003

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719172003
The component that hold information about this concept.
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
Spondyloepimetaphyseal dysplasia papss2 type
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

Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)

SCTID: 719172003, Primitive, Active


719172003|Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)|
  • en Spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type
  • en Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type
  • en Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
  • en Spondyloepimetaphyseal dysplasia pakistani type
  • en Spondyloepimetaphyseal dysplasia papss2 type

719172003 |Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    254062008 |Spondyloepimetaphyseal disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
Active

3315257019 - Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 ) type (en) View

3315257019
en
Synonym (core metadata concept)
Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 ) type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

3780963017 - Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type (en) View

3780963017
en
Synonym (core metadata concept)
Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3315254014 - Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (en) View

3315254014
en
Synonym (core metadata concept)
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3315253015 - Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) (en) View

3315253015
en
Fully specified name (core metadata concept)
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3315256011 - Spondyloepimetaphyseal dysplasia Pakistani type (en) View

3315256011
en
Synonym (core metadata concept)
Spondyloepimetaphyseal dysplasia Pakistani type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3315255010 - Spondyloepimetaphyseal dysplasia PAPSS2 type (en) View

3315255010
en
Synonym (core metadata concept)
Spondyloepimetaphyseal dysplasia PAPSS2 type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (13069144029) - 719172003 -> 363070008 (116680003) View

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

Relationship (13280494020) - 719172003 -> 271603002 (363714003) View

363714003 |Interprets (attribute)|
271603002 |Height / growth measure (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10519150023) - 719172003 -> 25283002 (116676008) View

116676008 |Associated morphology (attribute)|
25283002 |Congenital dysplasia (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11227355027) - 719172003 -> 25723000 (116676008) View

116676008 |Associated morphology (attribute)|
25723000 |Dysplasia (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619811025) - 719172003 -> 363045008 (116680003) View

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

Relationship (6619813027) - 719172003 -> 25283002 (116676008) View

116676008 |Associated morphology (attribute)|
25283002 |Congenital dysplasia (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6619814022) - 719172003 -> 255399007 (246454002) View

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

Relationship (6619815023) - 719172003 -> 272673000 (363698007) View

363698007 |Finding site (attribute)|
272673000 |Bone structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10519147020) - 719172003 -> 272673000 (363698007) View

363698007 |Finding site (attribute)|
272673000 |Bone structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10519148026) - 719172003 -> 255399007 (246454002) View

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

Relationship (10519149023) - 719172003 -> 308490002 (370135005) View

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

Relationship (6619809023) - 719172003 -> 85995004 (116680003) View

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

Relationship (6619810029) - 719172003 -> 254062008 (116680003) View

116680003 |Is a (attribute)|
254062008 |Spondyloepimetaphyseal disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6619812021) - 719172003 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (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

85995004 View

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

254062008 View

254062008
Spondyloepimetaphyseal disorder (disorder)
Spondyloepimetaphyseal disorder
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 (c23311dc-9ce7-5c50-b10e-7cc1c5ccfc94) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q77.7
TRUE
ALWAYS Q77.7 | 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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