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715472000: Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302747016 Reinhardt Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302749018 Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. 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
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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