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111310003: Ring chromosome 11 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
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
178542015 Ring chromosome 11 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3421671001000114 Ringchromosom-11-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914321000172117 syndrome du chromosome 11 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978381000172118 chromosome 11 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914321000172117 syndrome du chromosome 11 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978381000172118 chromosome 11 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421671001000114 Ringchromosom-11-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 11 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Is a Anomaly of chromosome pair 11 true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Finding site Chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Associated morphology Ring chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Is a Anomaly of sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Associated morphology Ring chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 11 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 11 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Café-au-lait spots and ring chromosome 11 Is a False Ring chromosome 11 syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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