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1228858000: complexe letale osteochondrodysplasie (aandoening)


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
13586961000146113 complexe letale osteochondrodysplasie type Symoens-Barnes-Gistelinck nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13586971000146119 complexe letale osteochondrodysplasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13586981000146117 complexe letale osteochondrodysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Complex lethal osteochondrodysplasia (disorder) Is a Dysplasia with decreased bone density true Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) Interprets Bone density scan true Inferred relationship Some 2
Complex lethal osteochondrodysplasia (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Complex lethal osteochondrodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Complex lethal osteochondrodysplasia (disorder) Finding site Bone structure true Inferred relationship Some 1
Complex lethal osteochondrodysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Complex lethal osteochondrodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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