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47017007: Ring chromosome 1 syndrome (disorder)

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
78364012 Ring chromosome 1 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3450461001000112 Ringchromosom-1-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
913761000172111 chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975171000172114 syndrome du chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
913761000172111 chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975171000172114 syndrome du chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450461001000112 Ringchromosom-1-Syndrom 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
Ring chromosome 1 syndrome Is a Anomaly of chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Associated morphology Ring chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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