FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.13 | FHIR Version n/a User: [n/a]

86997002: Ring chromosome 10 syndrome (disorder)

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

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

\Ring chromosome\Ring chromosome 10 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Ring chromosome 10 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 10 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 10 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Ring chromosome 10 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 10 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

144281015 Ring chromosome 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

829377015 Ring chromosome 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4212336013 An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

2478701000052115 ringkromosom 10-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 10 syndrome	Is a	Anomaly of chromosome pair 10	true	Inferred relationship	Some
Ring chromosome 10 syndrome	Is a	kromosom ersatt av ring- eller dicentrisk kromosom	false	Inferred relationship	Some
Ring chromosome 10 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 10 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 10 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 10 syndrome	Finding site	Chromosome pair 10 (cell structure)	false	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Ring chromosome 10 syndrome	Finding site	Chromosome pair 10 (cell structure)	false	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 10 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 10 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
144281015	Ring chromosome 10 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
829377015	Ring chromosome 10 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4212336013	An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2478701000052115	ringkromosom 10-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)