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113355002: Chromosome pair 3 (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
187570011 Chromosome pair 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1185727015 Chromosome pair 3 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
187570011 Chromosome pair 3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
187570011 Chromosome pair 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
648955014 Chromosome pair 3 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1185727015 Chromosome pair 3 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1185727015 Chromosome pair 3 (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 3 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 3 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q partial trisomy syndrome (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q partial trisomy syndrome (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial trisomy syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q partial trisomy syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial monosomy syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial monosomy syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
3q29 microduplication Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microdeletion syndrome (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
3q29 microdeletion syndrome (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 3
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 3p Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 3 syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 3 syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 3 syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 3
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q26 microduplication syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
3q26q27 microdeletion syndrome Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
3q26q27 microdeletion syndrome Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p25.3 deletion syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3p25.3 deletion syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal deletion of long arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 3 Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 3q Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 3
3q29 microdeletion syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site True Chromosome pair 3 Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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