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72837006: structuur van geslachtschromosoom X (celstructuur)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
120982015 Sex chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204482016 Sex chromosome X (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1329771000146112 structuur van geslachtschromosoom X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329781000146114 X-chromosoom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329791000146111 structuur van geslachtschromosoom X (celstructuur) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329801000146110 geslachtschromosoom X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1931551000146117 structuur van X-chromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10201251000146119 Geslachtschromosoom dat bij de vrouw in elke gewone lichaamscel tweemaal aanwezig is en bij de man in elke gewone lichaamscel eenmaal. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sex chromosome X Is a Sex chromosome true Inferred relationship Some
Sex chromosome X Part of Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 4
Chromosome Xp22.3 microdeletion syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Chromosome Xp22.3 microdeletion syndrome (disorder) Finding site False Sex chromosome X Inferred relationship Some 3
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Finding site False Sex chromosome X Inferred relationship Some 3
Xq12-q13.3 duplication syndrome (disorder) Finding site False Sex chromosome X Inferred relationship Some 1
X small rings Finding site True Sex chromosome X Inferred relationship Some 1
X-gebonden acromegalie Finding site False Sex chromosome X Inferred relationship Some 2
49,XXXYY syndrome Finding site False Sex chromosome X Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Distal Xq28 microduplication syndrome Finding site False Sex chromosome X Inferred relationship Some 1
Paternal uniparental disomy of chromosome X Finding site True Sex chromosome X Inferred relationship Some 1
Maternal uniparental disomy of chromosome X (disorder) Finding site True Sex chromosome X Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Fragile X syndrome Finding site True Sex chromosome X Inferred relationship Some 1
X-linked acrogigantism due to Xq26 microduplication Finding site True Sex chromosome X Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) Finding site False Sex chromosome X Inferred relationship Some 5
MECP2 duplication syndrome Finding site False Sex chromosome X Inferred relationship Some 1
49,XXXYY syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 6
Chromosome Xq27.3q28 duplication syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Xq12-q13.3 duplication syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 2
Carrier of fragile X chromosome (finding) Finding site True Sex chromosome X Inferred relationship Some 3
Xq25 microduplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier (disorder) Finding site True Sex chromosome X Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 4
MECP2 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 3
Distal Xq28 microduplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Xp21 deletion syndrome (disorder) Finding site True Sex chromosome X Inferred relationship Some 3
Mosaic Turner syndrome Finding site False Sex chromosome X Inferred relationship Some 1

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