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37367006: 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
62338010 Anomaly of chromosome pair 7, NOS en Synonym (core metadata concept) Inactive Only initial character 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
1724821000005110 Anomali i kromosompar 7 da Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) Danish module (core metadata concept)
2998401000005113 anomali i kromosompar 7 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


30 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 7 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 7 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 7 Finding site Chromosome pair 7 false Inferred relationship Some 1
Anomaly of chromosome pair 7 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 7 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 7 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 7 Associated morphology kongenit anomali false Inferred relationship Some 1
Anomaly of chromosome pair 7 Finding site Chromosome pair 7 false Inferred relationship Some 1
Anomaly of chromosome pair 7 Associated morphology kongenit anomali false Inferred relationship Some
Anomaly of chromosome pair 7 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 7 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 7 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 Inferred relationship Some
7q partial trisomy (disorder) Is a False Anomaly of chromosome pair 7 Inferred relationship Some
Williams syndrome Is a False Anomaly of chromosome pair 7 Inferred relationship Some
7q partial monosomy Is a False Anomaly of chromosome pair 7 Inferred relationship Some
7p partial trisomy (disorder) Is a False Anomaly of chromosome pair 7 Inferred relationship Some
Deletion of part of chromosome 7 (disorder) Is a True Anomaly of chromosome pair 7 Inferred relationship Some
Partial trisomy of chromosome 7 (disorder) Is a False Anomaly of chromosome pair 7 Inferred relationship Some
Trisomy 7 Is a True Anomaly of chromosome pair 7 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 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 Inferred relationship Some
Maternal uniparental disomy of chromosome 7 (disorder) Is a True Anomaly of chromosome pair 7 Inferred relationship Some

This concept is not in any reference sets

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