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702345009: Ring chromosome 14 syndrome (disorder)

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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 14 syndrome (disorder)	Is a	Chromosome replaced with ring or dicentric	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

GB English

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
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