45201007: Chromosome pair 17 (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 17

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

75370019 Chromosome pair 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1203235017 Chromosome pair 17 (cell structure) 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
Chromosome pair 17	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 17	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of chromosome pair 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
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.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of part of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	3
Partial trisomy of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia have also been reported.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia have also been reported.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 17 (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
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.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
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.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q24-qter duplication syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 17 (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
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.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
75370019	Chromosome pair 17	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1203235017	Chromosome pair 17 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core