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732249002: Bone dysplasia lethal Holmgren type (disorder)

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
5403619017 A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403620011 A rare lethal bone dysplasia characterised at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5403619017 A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403620011 A rare lethal bone dysplasia characterised at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436151001000118 Knochendysplasie, letale, Typ Holmgren de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951021000172112 dysplasie osseuse létale type Holmgren-Forsell fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951021000172112 dysplasie osseuse létale type Holmgren-Forsell fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436151001000118 Knochendysplasie, letale, Typ Holmgren de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bone dysplasia lethal Holmgren type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a Chondrodysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a Rhizomelic dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Interprets Limb length true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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