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1010276004: Ring chromosome (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
4212333017 Ring chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212334011 Ring chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212333017 Ring chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212334011 Ring chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ring chromosome (disorder) Is a Congenital chromosomal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome (disorder) Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome (disorder) Finding site Chromosome structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ring chromosome 13 syndrome (disorder) Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 8 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 12 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 15 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 16 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome Y syndrome (disorder) Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 19 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 3 syndrome (disorder) Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 6 syndrome (disorder) Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 7 syndrome (disorder) Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 9 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 4 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present. Is a True Ring chromosome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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