70488008: Chromosome pair 7 (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 7

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

117089011 Chromosome pair 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1204378017 Chromosome pair 7 (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 7	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 7	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
7p partial monosomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Williams syndrome (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q partial monosomy	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7p partial trisomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q partial monosomy	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7p partial trisomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7p partial monosomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q partial monosomy	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
7p partial trisomy (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
7p partial monosomy (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Williams syndrome (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
7q partial monosomy	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
7p partial monosomy (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Deletion of part of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Partial trisomy of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Trisomy 7	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 7 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	1
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
7p12-p14 deletion syndrome	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
7p12-p14 deletion syndrome	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
7p21.1 deletion syndrome	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
7p21.1 deletion syndrome	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 7	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 7	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
Distal trisomy 7q (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Medial duplication of long arm of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 7	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 7	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 7 (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 7 (disorder)	Finding site	False	Chromosome pair 7	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 7 (disorder)	Finding site	True	Chromosome pair 7	Inferred relationship	Some	1
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	Finding site	True	Chromosome pair 7	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
117089011	Chromosome pair 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1204378017	Chromosome pair 7 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core