FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

254088006: Brachyolmia (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
378241014 Brachyolmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644931010 Brachyolmia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1454191000005114 Brakyolmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachyolmia Is a Brakyraki false Inferred relationship Some
Brachyolmia Associated morphology Dysplasia true Inferred relationship Some 1
Brachyolmia Finding site Skeletal system structure false Inferred relationship Some 1
Brachyolmia Occurrence Congenital false Inferred relationship Some
Brachyolmia Finding site Musculoskeletal structure of spine false Inferred relationship Some
Brachyolmia Finding site Bone structure true Inferred relationship Some 1
Brachyolmia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Brachyolmia Finding site Bone structure false Inferred relationship Some 1
Brachyolmia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Brachyolmia Occurrence Congenital false Inferred relationship Some 2
Brachyolmia Associated morphology Dysplasia false Inferred relationship Some 2
Brachyolmia Finding site Bone structure false Inferred relationship Some 2
Brachyolmia Associated morphology kongenit dysplasi false Inferred relationship Some 2
Brachyolmia Occurrence Congenital false Inferred relationship Some 3
Brachyolmia Finding site Musculoskeletal structure of spine false Inferred relationship Some 1
Brachyolmia Occurrence Congenital true Inferred relationship Some 1
Brachyolmia Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Brachyolmia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachyolmia Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Brachyolmia Associated morphology Dysplasia false Inferred relationship Some 3
Brachyolmia Finding site Skeletal system structure false Inferred relationship Some 3
Brachyolmia Is a Congenital malformation syndromes associated with short stature true Inferred relationship Some
Brachyolmia Is a Spondylodysplastic group true Inferred relationship Some
Brachyolmia Is a Autosomal hereditary disorder true Inferred relationship Some
Brachyolmia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Brachyolmia Is a Developmental hereditary disorder true Inferred relationship Some
Brachyolmia Interprets Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Brakyolmi – Hobæk-type Is a False Brachyolmia Inferred relationship Some
Brachyolmia - Maroteaux type (disorder) Is a True Brachyolmia Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Brachyolmia Inferred relationship Some
An exceedingly rare form of brachyolmia, characterized by 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. Is a True Brachyolmia Inferred relationship Some
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Is a True Brachyolmia Inferred relationship Some
Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. Is a True Brachyolmia Inferred relationship Some

This concept is not in any reference sets

Back to Start