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725099009: dysplasie cranio-métadiaphysaire type os wormien (trouble)


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
760821000241115 dysplasie cranio-métadiaphysaire type os wormien (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
924731000172114 dysplasie cranio-métadiaphysaire type os wormien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation 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) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) localisation d'une constatation (attribut) structure osseuse 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) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Craniometadiaphyseal dysplasia wormian bone type (disorder) interprète (attribut) Osteoclast turnover rate (observable entity) true Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2
Craniometadiaphyseal dysplasia wormian bone type (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) interprète (attribut) ostéodensitométrie true Inferred relationship Some 2
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) Craniometadiaphyseal dysplasia true Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Craniometadiaphyseal dysplasia wormian bone type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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