56332006: Chromosome pair 10 (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 10

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

93674011 Chromosome pair 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1203735018 Chromosome pair 10 (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 10	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 10	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
10q partial monosomy (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
Anomaly of chromosome pair 10	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial trisomy syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10q partial trisomy syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
Complete trisomy 10 syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
10p partial monosomy syndrome (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10q partial monosomy (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10p partial trisomy syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10q partial trisomy syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
Complete trisomy 10 syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
Anomaly of chromosome pair 10	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Complete trisomy 10 syndrome	Finding site	False	Chromosome pair 10	Inferred relationship	Some	1
10q partial monosomy (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Anomaly of chromosome pair 10	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
10p partial trisomy syndrome	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
10q partial trisomy syndrome	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
10p partial monosomy syndrome (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
10q partial monosomy (disorder)	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	4
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	2
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	3
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	3
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Finding site	False	Chromosome pair 10	Inferred relationship	Some	5
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Finding site	True	Chromosome pair 10	Inferred relationship	Some	9
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Finding site	True	Chromosome pair 10	Inferred relationship	Some	8
Deletion of part of chromosome 10 (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Partial trisomy of chromosome 10 (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
Trisomy 10	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	3
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	3
Proximal duplication of long arm of chromosome 10	Finding site	True	Chromosome pair 10	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 10 (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 10 (disorder)	Finding site	True	Chromosome pair 10	Inferred relationship	Some	3
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	Finding site	True	Chromosome pair 10	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
93674011	Chromosome pair 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1203735018	Chromosome pair 10 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core