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111310003: Ring chromosome 11 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\...

\Ring chromosome\Ring chromosome 11 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Ring chromosome 11 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 11 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 11 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Ring chromosome 11 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 11 syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178542015 Ring chromosome 11 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

630197016 Ring chromosome 11 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4212351016 An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

2478711000052118 ringkromosom 11-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 11 syndrome	Is a	kromosom ersatt av ring- eller dicentrisk kromosom	false	Inferred relationship	Some
Ring chromosome 11 syndrome	Is a	Anomaly of chromosome pair 11 (disorder)	true	Inferred relationship	Some
Ring chromosome 11 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Finding site	Chromosome	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	3
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	3
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	3
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Ring chromosome 11 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 11 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Ring chromosome 11 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
café-au-lait-fläckar och ringkromosom 11	Is a	False	Ring chromosome 11 syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178542015	Ring chromosome 11 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630197016	Ring chromosome 11 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4212351016	An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2478711000052118	ringkromosom 11-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)