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278832007: Bent bone dysplasia group (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
415848013 Bent bone dysplasia group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
672037017 Bent bone dysplasia group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
415848013 Bent bone dysplasia group en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415848013 Bent bone dysplasia group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
672037017 Bent bone dysplasia group (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
672037017 Bent bone dysplasia group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5130961000241119 groupe de dysplasie des os courbés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5130961000241119 groupe de dysplasie des os courbés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bent bone dysplasia group Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Bent bone dysplasia group Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Bent bone dysplasia group Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bent bone dysplasia group Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bent bone dysplasia group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bent bone dysplasia group Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bent bone dysplasia group Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Kyphomelic dysplasia Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Stuve-Wiedemann dysplasia Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Bent bone dysplasia Is a False Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Weismann Netter syndrome (disorder) Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Bent bone dysplasia group Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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