37367006: Anomaly of chromosome pair 7 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62337017 Anomaly of chromosome pair 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769226010 Anomaly of chromosome pair 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

979061000172118 anomalie du chromosome 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 7 (disorder)	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 7 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 7 (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
7p partial monosomy (disorder)	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
7q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
Williams syndrome (disorder)	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
7q partial monosomy	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
7p partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
Deletion of part of chromosome 7 (disorder)	Is a	True	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
Partial trisomy of chromosome 7 (disorder)	Is a	False	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
Trisomy 7	Is a	True	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
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).	Is a	True	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
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).	Is a	True	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some
Maternal uniparental disomy of chromosome 7 (disorder)	Is a	True	Anomaly of chromosome pair 7 (disorder)	Inferred relationship	Some

This concept is not in any reference sets