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46507000: Chromosome pair 1 (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
77520019 Chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203290012 Chromosome pair 1 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
77520019 Chromosome pair 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
77520019 Chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
783864015 Chromosome pair 1 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203290012 Chromosome pair 1 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203290012 Chromosome pair 1 (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 1 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 1 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
1q partial monosomy (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 1 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 1 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1q41q42 microdeletion syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1q41q42 microdeletion syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 1q syndrome (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
1q44 microdeletion syndrome (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1q44 microdeletion syndrome (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1p36 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p31p32 microdeletion syndrome Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
1p31p32 microdeletion syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 1q syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternal uniparental disomy of chromosome 1 is a 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 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal trisomy, characterised by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare autosomal trisomy, characterised by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1p Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1q (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 1 (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of short arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of short arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial deletion of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial duplication of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial duplication of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 1 (disorder) Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal duplication of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 1q syndrome (disorder) Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1p36 Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2
1p35.2 microdeletion syndrome Finding site True Chromosome pair 1 Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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