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732249002: dysplasie osseuse létale type Holmgren-Forsell (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
3464733011 Bone dysplasia lethal Holmgren type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3464734017 Bone dysplasia lethal Holmgren type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3464735016 Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762521000241118 dysplasie osseuse létale type Holmgren-Forsell (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
951021000172112 dysplasie osseuse létale type Holmgren-Forsell fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3464736015 A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988. 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
Bone dysplasia lethal Holmgren type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Bone dysplasia lethal Holmgren type (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Bone dysplasia lethal Holmgren type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Bone dysplasia lethal Holmgren type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Bone dysplasia lethal Holmgren type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) Chondrodysplasia true Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Bone dysplasia lethal Holmgren type (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Bone dysplasia lethal Holmgren type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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