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254140006: Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378313013 Disorganised development of cartilaginous and fibrous components of the skeleton en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
378314019 Disorganized development of cartilaginous and fibrous components of the skeleton en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644990013 Disorganized development of cartilaginous and fibrous components of the skeleton (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5082181000241113 développement désordonné des composants cartilagineux et fibreux du squelette fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

19 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorganised development of cartilaginous and fibrous components of the skeleton Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton Is a Disorder of bone (disorder) false Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site Bone structure false Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence Congenital false Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site Skeletal system structure false Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology Dysplasia true Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology Congenital dysplasia false Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site Bone structure false Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology Congenital dysplasia false Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence Congenital false Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site Bone structure false Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology Congenital dysplasia false Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence Congenital true Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site Cartilage structure (body structure) true Inferred relationship Some 1
Disorganised development of cartilaginous and fibrous components of the skeleton Is a Congenital anomaly of cartilage true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysplasia epiphysealis hemimelica Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Metachondromatosis Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Dyschondroplasia Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Osteoglophonic dysplasia Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Fibrous dysplasia Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Enchondromatosis Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Hypoplastic chondrodystrophy Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Cherubism Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
chondrodystrophie malacique Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Multiple exostoses syndrome Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Hyperplastic chondrodystrophy Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
pseudochondroplasie Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Chondrodystophy NEC Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Genochondromatosis (disorder) Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Multiple congenital exostosis Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
Multiple non-ossifying fibromatosis Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
McCune Albright syndrome (disorder) Is a False Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Is a True Disorganised development of cartilaginous and fibrous components of the skeleton Inferred relationship Some

Reference Sets

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