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Terminology chevron_right Concepts chevron_right 765325002

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765325002
The component that hold information about this concept.
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)
Neurologic waardenburg shah 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

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)

SCTID: 765325002, Primitive, Active


765325002|Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)|
  • en Neurologic waardenburg shah syndrome
  • en Pcwh - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease
  • en Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease
  • en Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)

765325002 |Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)|

<<< 47434006 |Waardenburg's syndrome (disorder)| +
    23414001 |Peripheral demyelinating neuropathy (disorder)| +
    192781003 |Leukodystrophy (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    23880008 |Congenital anomaly of peripheral nerve (disorder)| +
    95477007 |Congenital degeneration of nervous system (disorder)| +
    106018006 |Hereditary degenerative disease of central nervous system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    700453005 |Congenital sensorineural hearing loss (disorder)| +
    363185004 |Hereditary disorder of the integument (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    788953003 |Hereditary hearing loss (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 32693004 |Demyelination (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 84782009 |Peripheral nerve structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
          363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 89031001 |Hypopigmentation (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3657913016 - Neurologic Waardenburg Shah syndrome (en) View

3657913016
en
Synonym (core metadata concept)
Neurologic Waardenburg Shah syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3657914010 - PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (en) View

3657914010
en
Synonym (core metadata concept)
PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3657912014 - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (en) View

3657912014
en
Synonym (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3657911019 - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) (en) View

3657911019
en
Fully specified name (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (15392654024) - 765325002 -> 362991006 (116680003) View

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

Relationship (16374385021) - 765325002 -> 788953003 (116680003) View

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

Relationship (15392669020) - 765325002 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316630027) - 765325002 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263402021) - 765325002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9266253025) - 765325002 -> 117590005 (363698007) View

363698007 |Finding site (attribute)|
117590005 |Ear structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10530987028) - 765325002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12095188020) - 765325002 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15392655020) - 765325002 -> 363070008 (116680003) View

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

Relationship (15392656021) - 765325002 -> 700453005 (116680003) View

116680003 |Is a (attribute)|
700453005 |Congenital sensorineural hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392659025) - 765325002 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392660024) - 765325002 -> 1250004 (363713009) View

363713009 |Has interpretation (attribute)|
1250004 |Decreased (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392661023) - 765325002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392662027) - 765325002 -> 91159003 (363698007) View

363698007 |Finding site (attribute)|
91159003 |Structure of auditory system (body structure)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392670021) - 765325002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392671020) - 765325002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392672029) - 765325002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
8
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392673023) - 765325002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
8
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15392703029) - 765325002 -> 363185004 (116680003) View

116680003 |Is a (attribute)|
363185004 |Hereditary disorder of the integument (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9465014024) - 765325002 -> 363235000 (116680003) View

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

Relationship (12095186024) - 765325002 -> 95477007 (116680003) View

116680003 |Is a (attribute)|
95477007 |Congenital degeneration of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12095187026) - 765325002 -> 106018006 (116680003) View

116680003 |Is a (attribute)|
106018006 |Hereditary degenerative disease of central nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263404022) - 765325002 -> 83386001 (116676008) View

116676008 |Associated morphology (attribute)|
83386001 |Congenital hypopigmentation (morphologic abnormality)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9263406024) - 765325002 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9465018022) - 765325002 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9474128021) - 765325002 -> 117590005 (363698007) View

363698007 |Finding site (attribute)|
117590005 |Ear structure (body structure)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10530984024) - 765325002 -> 23880008 (116680003) View

116680003 |Is a (attribute)|
23880008 |Congenital anomaly of peripheral nerve (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10530985020) - 765325002 -> 308490002 (370135005) View

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

Relationship (10530986021) - 765325002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11183651024) - 765325002 -> 89031001 (116676008) View

116676008 |Associated morphology (attribute)|
89031001 |Hypopigmentation (morphologic abnormality)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263392027) - 765325002 -> 47434006 (116680003) View

116680003 |Is a (attribute)|
47434006 |Waardenburg's syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263396029) - 765325002 -> 23414001 (116680003) View

116680003 |Is a (attribute)|
23414001 |Peripheral demyelinating neuropathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263397022) - 765325002 -> 192781003 (116680003) View

116680003 |Is a (attribute)|
192781003 |Leukodystrophy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263398028) - 765325002 -> 255399007 (246454002) View

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

Relationship (9263399020) - 765325002 -> 125495003 (116676008) View

116676008 |Associated morphology (attribute)|
125495003 |Myelin sheath alteration (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263400029) - 765325002 -> 84782009 (363698007) View

363698007 |Finding site (attribute)|
84782009 |Peripheral nerve structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263401025) - 765325002 -> 32693004 (116676008) View

116676008 |Associated morphology (attribute)|
32693004 |Demyelination (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9263405023) - 765325002 -> 11164009 (116680003) View

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

Relationship (9465012023) - 765325002 -> 255399007 (246454002) View

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

Relationship (9465013029) - 765325002 -> 389080008 (363698007) View

363698007 |Finding site (attribute)|
389080008 |White matter structure of brain and spinal cord (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9465015020) - 765325002 -> 54115001 (363698007) View

363698007 |Finding site (attribute)|
54115001 |Myelinated nerve fiber structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9465016021) - 765325002 -> 4720007 (116676008) View

116676008 |Associated morphology (attribute)|
4720007 |Dystrophy (morphologic abnormality)|
3
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

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
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

106018006 View

106018006
Hereditary degenerative disease of central nervous system (disorder)
Hereditary degenerative disease of central nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

700453005 View

700453005
Congenital sensorineural hearing loss (disorder)
Congenital sensorineural deafness
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

23414001 View

23414001
Peripheral demyelinating neuropathy (disorder)
Demyelinating polyneuropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

23880008 View

23880008
Congenital anomaly of peripheral nerve (disorder)
Congenital anomaly of nerve, nos
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

47434006 View

47434006
Waardenburg's syndrome (disorder)
Waardenburg syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

95477007 View

95477007
Congenital degeneration of nervous system (disorder)
Congenital neurological degeneration
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

192781003 View

192781003
Leukodystrophy (disorder)
Leucodystrophy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363185004 View

363185004
Hereditary disorder of the integument (disorder)
Hereditary disorder of the integument
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (c4035872-bf6a-5817-b19f-44aa1bb35d87) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.2
TRUE
ALWAYS E75.2 | 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