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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
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
4226371000052117 isokromosom Yq-syndromet sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 Some
Isochromosomy Yq (disorder) Associated morphology Abnormal cell structure true Inferred relationship Some 1
Isochromosomy Yq (disorder) Occurrence Congenital true Inferred relationship Some 1
Isochromosomy Yq (disorder) Finding site Sex chromosome Y true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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