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48812004: 17q partial trisomy syndrome (disorder)

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
4549371000241117 trisomie partielle 17q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology anomalie congénitale 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

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