48812004: 17q partial trisomy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

81340012 17q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

786422019 17q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1996111000005118 partiel trisomi 17q-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
17q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
17q partial trisomy syndrome	Is a	Anomaly of chromosome pair 17	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
17q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
17q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
17q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Is a	Partial trisomy of chromosome 17 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 17 (disorder)	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some

Reference Sets

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
81340012	17q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786422019	17q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1996111000005118	partiel trisomi 17q-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)