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205653005: Trisomy 12 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315395017 Trisomy 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591051011 Trisomy 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
315395017 Trisomy 12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
315395017 Trisomy 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591051011 Trisomy 12 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
591051011 Trisomy 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4886101000241112 trisomie 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4886101000241112 trisomie 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy 12 (disorder) Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Is a Anomaly of chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Partial trisomy of chromosome 12 (disorder) Is a True Trisomy 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Is a True Trisomy 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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