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

2016221000005112 partiel trisomi 16p-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 16p-syndrom	Is a	Anomaly of chromosome pair 16 (disorder)	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Associated morphology	Trisomy	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Finding site	Sex chromosome	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some
partiel trisomi 16p-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Associated morphology	Partial trisomy	false	Inferred relationship	Some	1
partiel trisomi 16p-syndrom	Is a	Partial trisomy of chromosome 16	false	Inferred relationship	Some

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	partiel trisomi 16p-syndrom	Inferred relationship	Some
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.	Is a	False	partiel trisomi 16p-syndrom	Inferred relationship	Some
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	partiel trisomi 16p-syndrom	Inferred relationship	Some
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	Is a	False	partiel trisomi 16p-syndrom	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)