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764500002: Distal trisomy 20q syndrome (disorder)

Status: current, Not 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
3650169014 Distal trisomy 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650170010 Distal duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650172019 Telomeric duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555945015 Distal trisomy 20q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555946019 Distal trisomy 20q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404312012 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404313019 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterised by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3650169014 Distal trisomy 20q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650169014 Distal trisomy 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650170010 Distal duplication 20q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650170010 Distal duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650171014 Distal trisomy 20q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650172019 Telomeric duplication 20q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650172019 Telomeric duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555945015 Distal trisomy 20q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555946019 Distal trisomy 20q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649874017 A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404312012 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404313019 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterised by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387741001000119 Trisomie 20q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907911000172115 duplication distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915601000172117 trisomie distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907911000172115 duplication distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915601000172117 trisomie distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387741001000119 Trisomie 20q, distale 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
Distal trisomy 20q syndrome Is a 20q partial trisomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 20q syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 20q syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 20q syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 20q syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 20q syndrome Associated morphology Partial trisomy 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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