45525000: 16q partial trisomy syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

75904016 16q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

782774015 16q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1996091000005113 partiel trisomi 16q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
partiel trisomi 16q-syndrom	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Is a	Anomaly of chromosome pair 16 (disorder)	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Finding site	Sex chromosome	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Associated morphology	Trisomy	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some
partiel trisomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Associated morphology	Partial trisomy	false	Inferred relationship	Some	1
partiel trisomi 16q-syndrom	Is a	Partial trisomy of chromosome 16	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	Is a	False	partiel trisomi 16q-syndrom	Inferred relationship	Some
Proximal duplication of long arm of chromosome 16 (disorder)	Is a	False	partiel trisomi 16q-syndrom	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)