FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  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
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
4161811000052119 trisomi 10-mosaiksyndromet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 Some
Mosaic trisomy 10 syndrome (disorder) Associated morphology Trisomy true Inferred relationship Some 2
Mosaic trisomy 10 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Mosaic trisomy 10 syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 2
Mosaic trisomy 10 syndrome (disorder) Associated morphology Chromosome mosaicism true Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) Is a Congenital malformation true Inferred relationship Some
Mosaic trisomy 10 syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start