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716195006: Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305046014 Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305047017 Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305048010 Platyspondyly amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305049019 Verloes Bourguignon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305050019 Brachyolmia and amelogenesis imperfecta syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305051015 An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. 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
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Structure of hard tissue of tooth false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of spine false Inferred relationship Some 2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Enamel structure true Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) dysplasie false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) Amelogenesis imperfecta true Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) Brachyolmia true Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of spine false Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) localisation d'une constatation (attribut) Structure of hard tissue of tooth false Inferred relationship Some 5

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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