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Terminology chevron_right Concepts chevron_right 721092005

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721092005
The component that hold information about this concept.
Developmental malformation, deafness, dystonia syndrome (disorder)
Developmental malformation, deafness, dystonia 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

Developmental malformation, deafness, dystonia syndrome (disorder)

SCTID: 721092005, Primitive, Active


721092005|Developmental malformation, deafness, dystonia syndrome (disorder)|
  • en Developmental malformation, deafness, dystonia syndrome
  • en Developmental malformation, deafness, dystonia syndrome (disorder)

721092005 |Developmental malformation, deafness, dystonia syndrome (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    82354003 |Multiple system malformation syndrome (disorder)| +
    85571008 |Sensory hearing loss (disorder)| +
    232333009 |Hearing loss associated with syndrome (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    425492002 |Generalized dystonia (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    788953003 |Hereditary hearing loss (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 80169004 |Cochlear structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 76375004 |Extrapyramidal system structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
Active

3323462018 - Developmental malformation, deafness, dystonia syndrome (en) View

3323462018
en
Synonym (core metadata concept)
Developmental malformation, deafness, dystonia syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3323461013 - Developmental malformation, deafness, dystonia syndrome (disorder) (en) View

3323461013
en
Fully specified name (core metadata concept)
Developmental malformation, deafness, dystonia syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (6754342027) - 721092005 -> 362991006 (116680003) View

116680003 |Is a (attribute)|
362991006 |Auditory system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16374424021) - 721092005 -> 788953003 (116680003) View

116680003 |Is a (attribute)|
788953003 |Hereditary hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13882872023) - 721092005 -> 255324009 (363714003) View

363714003 |Interprets (attribute)|
255324009 |Movement (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16350706027) - 721092005 -> 363847004 (363714003) View

363714003 |Interprets (attribute)|
363847004 |Movement observable (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754340024) - 721092005 -> 95827002 (116680003) View

116680003 |Is a (attribute)|
95827002 |Congenital hearing disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13069305028) - 721092005 -> 363070008 (116680003) View

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

Relationship (6754345025) - 721092005 -> 76375004 (363698007) View

363698007 |Finding site (attribute)|
76375004 |Extrapyramidal system structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754346029) - 721092005 -> 80169004 (363698007) View

363698007 |Finding site (attribute)|
80169004 |Cochlear structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754347022) - 721092005 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754348028) - 721092005 -> 364644000 (363714003) View

363714003 |Interprets (attribute)|
364644000 |Functional observable (observable entity)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6754349020) - 721092005 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6754350020) - 721092005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10529901028) - 721092005 -> 255399007 (246454002) View

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

Relationship (10529902024) - 721092005 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10529903025) - 721092005 -> 308490002 (370135005) View

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

Relationship (6754337024) - 721092005 -> 11164009 (116680003) View

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

Relationship (6754338025) - 721092005 -> 82354003 (116680003) View

116680003 |Is a (attribute)|
82354003 |Multiple system malformation syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754339022) - 721092005 -> 85571008 (116680003) View

116680003 |Is a (attribute)|
85571008 |Sensory hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754341023) - 721092005 -> 232333009 (116680003) View

116680003 |Is a (attribute)|
232333009 |Hearing loss associated with syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754343021) - 721092005 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6754344026) - 721092005 -> 425492002 (116680003) View

116680003 |Is a (attribute)|
425492002 |Generalized dystonia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

788953003 View

788953003
Hereditary hearing loss (disorder)
Hereditary hearing loss
900000000000073002 |Sufficiently defined by necessary conditions definition status (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

425492002 View

425492002
Generalized dystonia (disorder)
Generalised dystonia
900000000000074008 |Necessary but not sufficient concept 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

82354003 View

82354003
Multiple system malformation syndrome (disorder)
Multiple system malformation syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85571008 View

85571008
Sensory hearing loss (disorder)
Mất thính giác
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

232333009 View

232333009
Hearing loss associated with syndrome (disorder)
Syndromal deafness
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363235000 View

363235000
Hereditary disorder of nervous system (disorder)
Hereditary disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (03071248-c9bd-5ce7-a270-b09ba001e095) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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