23345003: Ring chromosome (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Chromosomal morphology (morphologic abnormality)\...

\Alteration of chromosome structure\Ring chromosome

\Karyotype morphology\Ring chromosome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome	Is a	Alteration of chromosome structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome	Is a	Karyotype morphology	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ring chromosome 11 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ring chromosome 1 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 9 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ring chromosome 4 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ring chromosome 10 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Café-au-lait spots and ring chromosome 11	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 11 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ring chromosome 1 syndrome	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Café-au-lait spots and ring chromosome 11	Associated morphology	False	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 8 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 13 syndrome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 15 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 16 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome Y syndrome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 5 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 19 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 2 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 3 syndrome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 6 syndrome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 7 syndrome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 12 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 17 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome (disorder)	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 10 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 9 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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.	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 4 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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.	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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.	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 11 syndrome	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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.	Associated morphology	True	Ring chromosome	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
39181012	Ring chromosome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752855013	Ring chromosome (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
39181012	Ring chromosome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
39181012	Ring chromosome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752855013	Ring chromosome (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
752855013	Ring chromosome (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core