27183007: Anomaly of chromosome pair 14 (disorder)

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

\Fetal and/or neonatal disorder\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

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	Some
Anomaly of chromosome pair 14	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 14	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 14 syndrome	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
Deletion of part of chromosome 14 (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Partial trisomy of chromosome 14 (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Maternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Paternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
A rare chromosomal anomaly characterised by 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	Some

This concept is not in any reference sets