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78901007: Chromosome pair 4 (cell structure)

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
130909016 Chromosome pair 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204750015 Chromosome pair 4 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 4 (cell structure) Is a Chromosome true Inferred relationship Some
Chromosome pair 4 (cell structure) partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
4p partial monosomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial monosomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial trisomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 4 Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial trisomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 2
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial trisomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial trisomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 4 Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial monosomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial monosomy syndrome Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 1
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial monosomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial trisomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial trisomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 4 Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
4q partial monosomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
4p partial monosomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
4q partial monosomy syndrome Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Finding site False Chromosome pair 4 (cell structure) Inferred relationship Some 3
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 3
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Deletion of part of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Partial trisomy of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Medial duplication of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 3
Paternal uniparental disomy of chromosome 4 Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Proximal duplication of long arm of chromosome 4 Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 3
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 1
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. Finding site True Chromosome pair 4 (cell structure) Inferred relationship Some 4

This concept is not in any reference sets

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