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70488008: Chromosome pair 7 (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
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
117089011 Chromosome pair 7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
117089011 Chromosome pair 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
810549019 Chromosome pair 7 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204378017 Chromosome pair 7 (cell structure) en Fully specified name Active Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 7 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 7 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
7p partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial trisomy (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 7 Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Williams syndrome Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial trisomy (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 7 Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial monosomy Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial trisomy (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Williams syndrome Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7q partial monosomy Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7p partial monosomy Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7q11.23 microduplication syndrome Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 7 (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 7p syndrome Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 7 syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7p22.1 microduplication syndrome (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 7 syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 7 syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 7q11.23 microdeletion syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 7q11.23 microduplication syndrome Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly with characteristics of 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 Existential restriction modifier (core metadata concept) 1
Distal monosomy 7p syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 7p syndrome (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7p12-p14 deletion syndrome Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p12-p14 deletion syndrome Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7p21.1 deletion syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
7p21.1 deletion syndrome (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 7 Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 7q Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 7 (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 7 Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 7 (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 7 (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 7 (disorder) Finding site False Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 7 (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 7q11.23 microduplication syndrome Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 7p syndrome Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
7p22.1 microduplication syndrome (disorder) Finding site True Chromosome pair 7 Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly with characteristics of 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 Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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