36608002: 16q partial monosomy 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

61093012 16q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

768380014 16q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1991681000005110 partiel monosomi 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 monosomi 16q-syndrom	Is a	Deletion of part of autosome	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Is a	Anomaly of chromosome pair 16 (disorder)	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Finding site	Sex chromosome	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Associated morphology	Monosomy	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some
partiel monosomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
partiel monosomi 16q-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	2
partiel monosomi 16q-syndrom	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
partiel monosomi 16q-syndrom	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
partiel monosomi 16q-syndrom	Is a	Deletion of part of chromosome 16 (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	False	partiel monosomi 16q-syndrom	Inferred relationship	Some
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	Is a	False	partiel monosomi 16q-syndrom	Inferred relationship	Some
Distal deletion of long arm of chromosome 16	Is a	False	partiel monosomi 16q-syndrom	Inferred relationship	Some
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	False	partiel monosomi 16q-syndrom	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)