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Terminology chevron_right Concepts chevron_right 733469003

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733469003
The component that hold information about this concept.
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)
Westerhof beemer cormane 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

Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)

SCTID: 733469003, Primitive, Active


733469003|Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)|
  • en Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
  • en Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)
  • en Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
  • en Westerhof beemer cormane syndrome

733469003 |Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)|

<<< 78572006 |Neurocutaneous syndrome (disorder)| +
    205564003 |Congenital pigmentary skin anomalies (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    724839001 |Genetic disorder of skin pigmentation (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    88425004 |Congenital anomaly of nervous system (disorder)| +
    363185004 |Hereditary disorder of the integument (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 79644001 |Pigment alteration (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)| }
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3499496014 - Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (en) View

3499496014
en
Synonym (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3499498010 - Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder) (en) View

3499498010
en
Fully specified name (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3499497017 - Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome (en) View

3499497017
en
Synonym (core metadata concept)
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3499499019 - Westerhof Beemer Cormane syndrome (en) View

3499499019
en
Synonym (core metadata concept)
Westerhof Beemer Cormane syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (15392711023) - 733469003 -> 363185004 (116680003) View

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

Relationship (7000246020) - 733469003 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7000249029) - 733469003 -> 255399007 (246454002) View

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

Relationship (7000250029) - 733469003 -> 39937001 (363698007) View

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

Relationship (13647852020) - 733469003 -> 88425004 (116680003) View

116680003 |Is a (attribute)|
88425004 |Congenital anomaly of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13647853026) - 733469003 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13647854021) - 733469003 -> 108369006 (116676008) View

116676008 |Associated morphology (attribute)|
108369006 |Neoplasm (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13647855022) - 733469003 -> 108369006 (116676008) View

116676008 |Associated morphology (attribute)|
108369006 |Neoplasm (morphologic abnormality)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069683028) - 733469003 -> 363070008 (116680003) View

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

Relationship (7000248021) - 733469003 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (7000252021) - 733469003 -> 255399007 (246454002) View

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

Relationship (7001715029) - 733469003 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (7008643024) - 733469003 -> 21390004 (116676008) View

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

Relationship (7008644029) - 733469003 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (7076367022) - 733469003 -> 79644001 (116676008) View

116676008 |Associated morphology (attribute)|
79644001 |Pigment alteration (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10518423026) - 733469003 -> 255399007 (246454002) View

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

Relationship (10518424021) - 733469003 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518425022) - 733469003 -> 79644001 (116676008) View

116676008 |Associated morphology (attribute)|
79644001 |Pigment alteration (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518426023) - 733469003 -> 255399007 (246454002) View

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

Relationship (10518427025) - 733469003 -> 308490002 (370135005) View

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

Relationship (10518428024) - 733469003 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518429027) - 733469003 -> 49755003 (116676008) View

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

Relationship (10518430021) - 733469003 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7000241026) - 733469003 -> 78572006 (116680003) View

116680003 |Is a (attribute)|
78572006 |Neurocutaneous syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7000242022) - 733469003 -> 205564003 (116680003) View

116680003 |Is a (attribute)|
205564003 |Congenital pigmentary skin anomalies (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7000243028) - 733469003 -> 363235000 (116680003) View

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

Relationship (7000244023) - 733469003 -> 724839001 (116680003) View

116680003 |Is a (attribute)|
724839001 |Genetic disorder of skin pigmentation (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

724839001 View

724839001
Genetic disorder of skin pigmentation (disorder)
Genetic disorder of skin pigmentation
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

205564003 View

205564003
Congenital pigmentary skin anomalies (disorder)
Dị tật sắc tố da bẩm sinh
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

88425004 View

88425004
Congenital anomaly of nervous system (disorder)
Dị tật bẩm sinh của hệ thần kinh
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

78572006 View

78572006
Neurocutaneous syndrome (disorder)
Phacomatosis
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

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 (0bd0f661-0d0b-515f-ae81-c53104bf6869) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q82.8
TRUE
ALWAYS Q82.8 | 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)|

ExtendedMap object (0bee821d-be4d-541b-83af-c55f73fa5602) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
L81.8
TRUE
ALWAYS L81.8 | 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