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

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton

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

2235491000005117 Desorganiseret udvikling af skelettets bruskkomponenter og fibrøse komponenter da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorganised development of cartilaginous and fibrous components of the skeleton	Is a	Skeletal dysplasia	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	kongenit dysplasi	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	kongenit dysplasi	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	kongenit dysplasi	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 (disorder)	Is a	False	Disorganised development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Dyskondroplasi	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
Fibrøs dysplasi	Is a	False	Disorganised development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Enchondromatosis (disorder)	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
kerubisme	Is a	False	Disorganised development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Chondrodystrophia malacia	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
Hyperplastisk kondrodystrofi	Is a	False	Disorganised development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Pseudokondroplasi	Is a	False	Disorganised development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Kondrodystrofi, ikke klassificeret andetsteds	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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US English

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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
2235491000005117	Desorganiseret udvikling af skelettets bruskkomponenter og fibrøse komponenter	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)