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718559000: dysplasie acromésomélique type Maroteaux (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
1009321000172110 dysplasie acromésomélique type Maroteaux fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3312762012 Acromesomelic dysplasia Maroteaux type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312763019 Acromesomelic dysplasia Maroteaux type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
752371000241116 dysplasie acromésomélique type Maroteaux (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3312764013 An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence. 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
dysplasie acromésomélique type Maroteaux Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
dysplasie acromésomélique type Maroteaux morphologie associée (attribut) dysplasie true Inferred relationship Some 1
dysplasie acromésomélique type Maroteaux est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) Acromesomelic dysplasia syndrome true Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
dysplasie acromésomélique type Maroteaux morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
dysplasie acromésomélique type Maroteaux survenue (attribut) congénital true Inferred relationship Some 1
dysplasie acromésomélique type Maroteaux localisation d'une constatation (attribut) structure osseuse 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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