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763530000: Distal monosomy 9p syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642753010 Distal deletion 9p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642754016 Distal monosomy 9p syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642755015 Distal monosomy 9p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642756019 Distal monosomy 9p syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404091013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404092018 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 characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642753010 Distal deletion 9p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642753010 Distal deletion 9p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642754016 Distal monosomy 9p syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642754016 Distal monosomy 9p syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642755015 Distal monosomy 9p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642755015 Distal monosomy 9p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642756019 Distal monosomy 9p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642756019 Distal monosomy 9p syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3642757011 A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404091013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404092018 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 characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418601001000116 Distale Monosomie 9p de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5500321000241112 monosomie distale 9p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5500321000241112 monosomie distale 9p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418601001000116 Distale Monosomie 9p de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal monosomy 9p syndrome (disorder) Is a 9p partial monosomy syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 9p syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 9p syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 9p syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 9p syndrome (disorder) Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 9p syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 9p syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 9p syndrome (disorder) Is a Deletion of part of chromosome 9 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
9p24.3 deletion syndrome (disorder) Is a True Distal monosomy 9p syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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