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47017007: Ring chromosome 1 syndrome (disorder)

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

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

\Ring chromosome\Ring chromosome 1 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Ring chromosome 1 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 1 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 1 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Ring chromosome 1 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 1 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

78364012 Ring chromosome 1 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784429013 Ring chromosome 1 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4212335012 An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

2478691000052115 ringkromosom 1-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 1 syndrome	Is a	Anomaly of chromosome pair 1	true	Inferred relationship	Some
Ring chromosome 1 syndrome	Is a	kromosom ersatt av ring- eller dicentrisk kromosom	false	Inferred relationship	Some
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 1 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 1 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Ring chromosome 1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 1 syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
78364012	Ring chromosome 1 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784429013	Ring chromosome 1 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4212335012	An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2478691000052115	ringkromosom 1-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)