88326002: 16p 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

146436018 16p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

830986019 16p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

146436018 16p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

146436018 16p partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

146436018 16p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

830986019 16p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

830986019 16p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

830986019 16p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

830986019 16p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16p partial trisomy syndrome	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Associated morphology	Trisomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Associated morphology	Partial trisomy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16p partial trisomy syndrome	Is a	Partial trisomy of chromosome 16	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	Is a	False	16p partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
16p13.3 microduplication syndrome	Is a	False	16p partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	Is a	False	16p partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal 16p11.2 microduplication syndrome (disorder)	Is a	False	16p partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)