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726379004: Deletion of part of chromosome 9 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3448827010 Deletion of part of chromosome 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448828017 Deletion of part of chromosome 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5876081000241119 délétion d'une partie du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5876091000241117 délétion partielle du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 9 (disorder) Is a Anomaly of chromosome pair 9 true Inferred relationship Some
Deletion of part of chromosome 9 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 9 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 9 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 9 (disorder) Finding site Chromosome pair 9 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial monosomy syndrome Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Some
9p partial monosomy syndrome Is a False Deletion of part of chromosome 9 (disorder) Inferred relationship Some
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Some
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Some
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Some
Proximal deletion of short arm of chromosome 9 Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Some

This concept is not in any reference sets

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