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Terminology chevron_right Concepts chevron_right 1010628009

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1010628009
The component that hold information about this concept.
X-linked congenital generalized hypertrichosis (disorder)
Macias-flores garcia-cruz rivera 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

X-linked congenital generalized hypertrichosis (disorder)

SCTID: 1010628009, Primitive, Active


1010628009|X-linked congenital generalized hypertrichosis (disorder)|
  • en Congenital generalised hypertrichosis macias-flores type
  • en Congenital generalized hypertrichosis macias-flores type
  • en Macias-flores garcia-cruz rivera syndrome
  • en X-linked congenital generalised hypertrichosis
  • en X-linked congenital generalized hypertrichosis
  • en X-linked congenital generalized hypertrichosis (disorder)

1010628009 |X-linked congenital generalized hypertrichosis (disorder)|

<<< 838368005 |Congenital generalized hypertrichosis (disorder)| +
    363185004 |Hereditary disorder of the integument (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    403799003 |Congenital hypertrichosis lanuginosa (disorder)| +
    1162984000 |X-linked dominant hereditary disease (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 57697001 |Growth alteration (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 9625005 |Lanugo hair (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

4636336012 - Congenital generalised hypertrichosis Macias-Flores type (en) View

4636336012
en
Synonym (core metadata concept)
Congenital generalised hypertrichosis Macias-Flores type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

4636337015 - Congenital generalized hypertrichosis Macias-Flores type (en) View

4636337015
en
Synonym (core metadata concept)
Congenital generalized hypertrichosis Macias-Flores type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

4636338013 - Macias-Flores Garcia-Cruz Rivera syndrome (en) View

4636338013
en
Synonym (core metadata concept)
Macias-Flores Garcia-Cruz Rivera syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

4213369015 - X-linked congenital generalised hypertrichosis (en) View

4213369015
en
Synonym (core metadata concept)
X-linked congenital generalised hypertrichosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

4213367018 - X-linked congenital generalized hypertrichosis (en) View

4213367018
en
Synonym (core metadata concept)
X-linked congenital generalized hypertrichosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

4213368011 - X-linked congenital generalized hypertrichosis (disorder) (en) View

4213368011
en
Fully specified name (core metadata concept)
X-linked congenital generalized hypertrichosis (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (13263420029) - 1010628009 -> 128430005 (116680003) View

116680003 |Is a (attribute)|
128430005 |X-linked hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14020650021) - 1010628009 -> 1162984000 (116680003) View

116680003 |Is a (attribute)|
1162984000 |X-linked dominant hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13263418027) - 1010628009 -> 838368005 (116680003) View

116680003 |Is a (attribute)|
838368005 |Congenital generalized hypertrichosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13263419024) - 1010628009 -> 363185004 (116680003) View

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

Relationship (13263421025) - 1010628009 -> 363070008 (116680003) View

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

Relationship (13263422021) - 1010628009 -> 255399007 (246454002) View

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

Relationship (13263423027) - 1010628009 -> 308490002 (370135005) View

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

Relationship (13263424022) - 1010628009 -> 57697001 (116676008) View

116676008 |Associated morphology (attribute)|
57697001 |Growth alteration (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13263425023) - 1010628009 -> 9625005 (363698007) View

363698007 |Finding site (attribute)|
9625005 |Lanugo hair (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13263445026) - 1010628009 -> 403799003 (116680003) View

116680003 |Is a (attribute)|
403799003 |Congenital hypertrichosis lanuginosa (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

1162984000 View

1162984000
X-linked dominant hereditary disease (disorder)
X-linked dominant hereditary disease
900000000000074008 |Necessary but not sufficient concept 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

838368005 View

838368005
Congenital generalized hypertrichosis (disorder)
Congenital generalised hypertrichosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

403799003 View

403799003
Congenital hypertrichosis lanuginosa (disorder)
Congenital hypertrichosis lanuginosa
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 (3660ebf9-498d-5090-8386-0f347b2b2ed4) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q84.2
TRUE
ALWAYS Q84.2
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