702345009: syndroom van ring chromosoom14 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 14 syndrome (disorder)

\Congenital chromosomal disease\Ring chromosome\Ring chromosome 14 syndrome (disorder)
\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Ring chromosome 14 syndrome (disorder)

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

\Ring chromosome\Ring chromosome 14 syndrome (disorder)

\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Ring chromosome 14 syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 14 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995389010 Ring chromosome 14 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995489011 Ring chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995651012 Ring chromosome 14 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995728019 Ring 14 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10256601000146117 syndroom van ring chromosoom14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10256621000146113 syndroom van ring chromosoom14 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10257291000146111 ringchromosoom 14-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5278155016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 14 syndrome (disorder)	Is a	chromosoom vervangen door ringchromosoom of dicentrisch chromosoom	false	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Ring chromosome 14 syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Ring chromosome 14 syndrome (disorder)	Finding site	Chromosome structure	false	Inferred relationship	Some	2
Ring chromosome 14 syndrome (disorder)	Is a	Anomaly of chromosome pair 14	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets