27183007: Anomaly of chromosome pair 14 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

45457017 Anomaly of chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

757721014 Anomaly of chromosome pair 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

45457017 Anomaly of chromosome pair 14 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

45457017 Anomaly of chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

757721014 Anomaly of chromosome pair 14 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

757721014 Anomaly of chromosome pair 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1007091000172117 anomalie du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1007091000172117 anomalie du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 14	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 14	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 14	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 14	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 14	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 14 syndrome	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
14q11.2 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic trisomy 14 syndrome	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets