268294001: Chromosome replaced with ring or dicentric (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome replaced with ring or dicentric	Is a	Congenital chromosomal disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chromosome replaced with ring or dicentric	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chromosome replaced with ring or dicentric	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chromosome replaced with ring or dicentric	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chromosome replaced with ring or dicentric	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chromosome replaced with ring or dicentric	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ring chromosome 11 syndrome	Is a	False	Chromosome replaced with ring or dicentric	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	False	Chromosome replaced with ring or dicentric	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	False	Chromosome replaced with ring or dicentric	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	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 9 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 4 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 10 syndrome	Is a	False	Chromosome replaced with ring or dicentric	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	False	Chromosome replaced with ring or dicentric	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	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 8 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 13 syndrome (disorder)	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 15 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 16 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome Y syndrome (disorder)	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 19 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 3 syndrome (disorder)	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 6 syndrome (disorder)	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 7 syndrome (disorder)	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 12 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome	Is a	False	Chromosome replaced with ring or dicentric	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
400957013	Chromosome replaced with ring or dicentric	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
661018012	Chromosome replaced with ring or dicentric (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400957013	Chromosome replaced with ring or dicentric	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
400957013	Chromosome replaced with ring or dicentric	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
661018012	Chromosome replaced with ring or dicentric (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
661018012	Chromosome replaced with ring or dicentric (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core