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31325007: Ring chromosome 21 syndrome (disorder)

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

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

\Ring chromosome\Ring chromosome 21 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Ring chromosome 21 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 21 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 21 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Ring chromosome 21 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 21 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

52387014 Ring chromosome 21 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

762434019 Ring chromosome 21 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4212344013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4212345014 An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

2467091000052117 ringkromosom 21-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 21 syndrome	Is a	kromosom ersatt av ring- eller dicentrisk kromosom	false	Inferred relationship	Some
Ring chromosome 21 syndrome	Is a	Anomaly of chromosome pair 21	true	Inferred relationship	Some
Ring chromosome 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 21 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 21 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 21 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Ring chromosome 21 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 21 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
52387014	Ring chromosome 21 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762434019	Ring chromosome 21 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4212344013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4212345014	An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2467091000052117	ringkromosom 21-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)