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86997002: Ring chromosome 10 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
144281015 Ring chromosome 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829377015 Ring chromosome 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212336013 An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
144281015 Ring chromosome 10 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
144281015 Ring chromosome 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829377015 Ring chromosome 10 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
829377015 Ring chromosome 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212336013 An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385451001000117 Ringchromosom-10-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931551000172110 chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996931000172110 syndrome du chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931551000172110 chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996931000172110 syndrome du chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385451001000117 Ringchromosom-10-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 10 syndrome Is a Anomaly of chromosome pair 10 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Associated morphology Ring chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 10 syndrome Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 10 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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