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764621006: Mosaic trisomy 16 syndrome (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
3654222015 Mosaic trisomy 16 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654223013 Trisomy 16 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654224019 Mosaic trisomy 16 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654225018 Mosaic trisomy chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404334014 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654222015 Mosaic trisomy 16 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654223013 Trisomy 16 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654224019 Mosaic trisomy 16 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654225018 Mosaic trisomy chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654226017 A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404334014 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3384281001000110 Mosaik-Trisomie 16 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503721000241118 trisomie 16 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503721000241118 trisomie 16 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384281001000110 Mosaik-Trisomie 16 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
Mosaic trisomy 16 syndrome Is a Anomaly of chromosome pair 16 true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 16 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 16 syndrome Associated morphology Chromosome mosaicism false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 16 syndrome Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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