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725099009: craniometadiafysaire dysplasie Wormiaans-bottype (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3438525011 Craniometadiaphyseal dysplasia wormian bone type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3438526012 Craniometadiaphyseal dysplasia wormian bone type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6952681000146119 craniometadiafysaire dysplasie Wormiaans-bottype nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6952691000146117 craniometadiafysaire dysplasie Wormiaans-bottype (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3438527015 An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777336015 An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. 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
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a Craniometadiaphyseal dysplasia true Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) Occurrence Congenital false Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) Finding site Bone structure false Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) Finding site Bone structure true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Craniometadiaphyseal dysplasia wormian bone type (disorder) Interprets Osteoclast turnover rate true Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) Has interpretation Above reference range true Inferred relationship Some 2
Craniometadiaphyseal dysplasia wormian bone type (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) Interprets Bone density scan true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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