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13555004: Ring chromosome 22 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\...

\Ring chromosome\Ring chromosome 22 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Ring chromosome 22 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 22 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 22 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Ring chromosome 22 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 22 syndrome

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

23143016 Ring chromosome 22 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

738916012 Ring chromosome 22 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4212339018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4212340016 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 behavioral characteristics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

922861000172118 syndrome du chromosome 22 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

944321000172110 chromosome 22 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

997421000172118 r(22)-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1012811000172115 ringchromosoom 22 syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 22 syndrome	Is a	Anomaly of chromosome pair 22	true	Inferred relationship	Some
Ring chromosome 22 syndrome	Is a	Chromosome replaced with ring or dicentric	false	Inferred relationship	Some
Ring chromosome 22 syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 22 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 22 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 22 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Ring chromosome 22 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 22 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
23143016	Ring chromosome 22 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
738916012	Ring chromosome 22 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4212339018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4212340016	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 behavioral characteristics.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
922861000172118	syndrome du chromosome 22 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
944321000172110	chromosome 22 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
997421000172118	r(22)-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1012811000172115	ringchromosoom 22 syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)