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Terminology chevron_right Concepts chevron_right 719688002

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719688002
The component that hold information about this concept.
Multiple epiphyseal dysplasia al-gazali type (disorder)
Multiple epiphyseal dysplasia al-gazali 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

Multiple epiphyseal dysplasia al-gazali type (disorder)

SCTID: 719688002, Primitive, Active


719688002|Multiple epiphyseal dysplasia al-gazali type (disorder)|
  • en Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
  • en Multiple epiphyseal dysplasia al-gazali type
  • en Multiple epiphyseal dysplasia al-gazali type (disorder)

719688002 |Multiple epiphyseal dysplasia al-gazali type (disorder)|

<<< 59708000 |Multiple epiphyseal dysplasia (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 43719000 |Structure of epiphysis (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
Active

3317495014 - Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome (en) View

3317495014
en
Synonym (core metadata concept)
Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3317494013 - Multiple epiphyseal dysplasia Al-Gazali type (en) View

3317494013
en
Synonym (core metadata concept)
Multiple epiphyseal dysplasia Al-Gazali type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3317493019 - Multiple epiphyseal dysplasia Al-Gazali type (disorder) (en) View

3317493019
en
Fully specified name (core metadata concept)
Multiple epiphyseal dysplasia Al-Gazali type (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (13280506029) - 719688002 -> 271603002 (363714003) View

363714003 |Interprets (attribute)|
271603002 |Height / growth measure (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10514553026) - 719688002 -> 25283002 (116676008) View

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

Relationship (11227534025) - 719688002 -> 25723000 (116676008) View

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

Relationship (11569003023) - 719688002 -> 255314001 (263502005) View

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

Relationship (6771211020) - 719688002 -> 25283002 (116676008) View

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

Relationship (6771212029) - 719688002 -> 255399007 (246454002) View

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

Relationship (6771213023) - 719688002 -> 43719000 (363698007) View

363698007 |Finding site (attribute)|
43719000 |Structure of epiphysis (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10514550028) - 719688002 -> 308490002 (370135005) View

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

Relationship (10514551029) - 719688002 -> 43719000 (363698007) View

363698007 |Finding site (attribute)|
43719000 |Structure of epiphysis (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10514552020) - 719688002 -> 255399007 (246454002) View

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

Relationship (6640831025) - 719688002 -> 59708000 (116680003) View

116680003 |Is a (attribute)|
59708000 |Multiple epiphyseal dysplasia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6640832021) - 719688002 -> 85995004 (116680003) View

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

59708000 View

59708000
Multiple epiphyseal dysplasia (disorder)
Multiple epiphyseal dysplasia
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

ExtendedMap object (6b252cbb-e44c-5d50-95a7-c6d68a467eea) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q77.3
TRUE
ALWAYS Q77.3 | 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