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770542008: Isochromosomy Yq (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701194012 Isochromosomy Yq (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701195013 Isochromosomy Yq en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404799016 A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701194012 Isochromosomy Yq (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701195013 Isochromosomy Yq en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701196014 A rare gonosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404799016 A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417521001000113 Isochromosom Yq de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002651000172118 isochromosomie Yq fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002651000172118 isochromosomie Yq fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417521001000113 Isochromosom Yq de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isochromosomy Yq (disorder) Is a Anomaly of chromosome Y true Inferred relationship Existential restriction modifier (core metadata concept)
Isochromosomy Yq (disorder) Associated morphology Abnormal cell structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isochromosomy Yq (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isochromosomy Yq (disorder) Finding site Sex chromosome Y true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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