FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

764461004: Mosaic trisomy 10 syndrome (disorder)

Status: current, 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
3649942011 Mosaic trisomy 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649943018 Mosaic trisomy 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649944012 Mosaic trisomy 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649945013 Mosaic trisomy chromosome 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649946014 Trisomy 10 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404306019 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404307011 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterised by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649942011 Mosaic trisomy 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649943018 Mosaic trisomy 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649944012 Mosaic trisomy 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649945013 Mosaic trisomy chromosome 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649946014 Trisomy 10 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649954011 A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404306019 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404307011 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterised by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409511001000113 Mosaik-Trisomie 10 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503481000241112 trisomie 10 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503481000241112 trisomie 10 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409511001000113 Mosaik-Trisomie 10 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic trisomy 10 syndrome (disorder) Is a Trisomy 10 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 10 syndrome (disorder) Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 10 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 10 syndrome (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 10 syndrome (disorder) Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 10 syndrome (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 10 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 10 syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 10 syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 10 syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start