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1228858000: Complex lethal osteochondrodysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5063476015 Complex lethal osteochondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063477012 Complex lethal osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063478019 Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400042012 A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400043019 A rare, genetic, primary bone dysplasia with decreased bone density characterised by fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063476015 Complex lethal osteochondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063477012 Complex lethal osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063478019 Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5063479010 A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063480013 A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400042012 A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400043019 A rare, genetic, primary bone dysplasia with decreased bone density characterised by fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388991001000111 Osteochondrodysplasie, komplexe letale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388991001000111 Osteochondrodysplasie, komplexe letale 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
Complex lethal osteochondrodysplasia (disorder) Is a Osteochondrodysplasia syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a Dysplasia with decreased bone density true Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 2
Complex lethal osteochondrodysplasia (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Complex lethal osteochondrodysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complex lethal osteochondrodysplasia (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complex lethal osteochondrodysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complex lethal osteochondrodysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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