37535007: Anomaly of chromosome pair 12 (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 12

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12

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

62616016 Anomaly of chromosome pair 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769413013 Anomaly of chromosome pair 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

871971000172119 anomalie du chromosome 12 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 12	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 12	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
12p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
12q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations.	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Deletion of part of chromosome 12 (disorder)	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
Partial trisomy of chromosome 12	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Trisomy 12	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some

This concept is not in any reference sets