Link to this page
Medical Subject Headings
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/MESH/D010009
http://purl.bioontology.org/ontology/MESH/D010009
|
|---|---|
| Preferred Name | Osteochondrodysplasias |
| Definitions |
Abnormal development of cartilage and bone.
|
| Synonyms |
Late Onset Spondyloepiphyseal Dysplasia
Schwartz-Jampel-Aberfeld Syndrome
Multiple Epiphyseal Dysplasia
X Linked Spondyloepiphyseal Dysplasia Tarda
X Linked SED
Syndrome, Schwartz-Jampel-Aberfeld
Melnick Needles Syndrome
Sost-Related Sclerosing Bone Dysplasia
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Dysplasia, Spondyloepiphyseal
Schwartz-Jampel Syndrome
Spondylo-Epimetaphyseal Dysplasia With Myotonia
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
Chondrodystrophic Myotonia
Schwartz Jampel Syndrome, Type 1
SED Tarda
Sost Sclerosing Bone Dysplasia
X-Linked SEDT
Chondrodystrophy, Myotonic
X-Linked SED
Spondyloepiphyseal Dysplasia
SED, X-Linked
Schwartz Jampel Aberfeld syndrome
X Linked SEDT
Hyperostosis Corticalis Generalisata
Schwartz-Jampel Syndrome, Type 1
Van Buchem Disease
SEDT, X-Linked
Hyperphosphatasemia Tarda
Spondyloepiphyseal Dysplasia, Late
Myotonic Chondrodystrophy
Melnick-Needles Osteodysplasty
Spondyloepiphyseal Dysplasia Tarda, X Linked
Late-Onset Spondyloepiphyseal Dysplasia
Osteodysplasty, Melnick-Needles
Osteochondrodysplasia
Osteodysplasty of Melnick and Needles
Late Spondyloepiphyseal Dysplasia
Myotonia, Chondrodystrophic
Schwartz Jampel Syndrome
Endosteal Hyperostosis, Autosomal Recessive
SJA Syndrome
Dyschondroplasia
Melnick Needles Osteodysplasty
Dyschondroplasias
X-Linked Spondyloepiphyseal Dysplasia Tarda
Melnick-Needles Syndrome
Spondyloepiphyseal Dysplasia, Late-Onset
See more
See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Abnormal development of cartilage and bone. |
|---|---|
| altLabel |
Late Onset Spondyloepiphyseal Dysplasia
Schwartz-Jampel-Aberfeld Syndrome
Multiple Epiphyseal Dysplasia
X Linked Spondyloepiphyseal Dysplasia Tarda
X Linked SED
Syndrome, Schwartz-Jampel-Aberfeld
Melnick Needles Syndrome
Sost-Related Sclerosing Bone Dysplasia
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Dysplasia, Spondyloepiphyseal
Schwartz-Jampel Syndrome
Spondylo-Epimetaphyseal Dysplasia With Myotonia
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
Chondrodystrophic Myotonia
Schwartz Jampel Syndrome, Type 1
SED Tarda
Sost Sclerosing Bone Dysplasia
X-Linked SEDT
Chondrodystrophy, Myotonic
X-Linked SED
Spondyloepiphyseal Dysplasia
SED, X-Linked
Schwartz Jampel Aberfeld syndrome
X Linked SEDT
Hyperostosis Corticalis Generalisata
Schwartz-Jampel Syndrome, Type 1
Van Buchem Disease
SEDT, X-Linked
Hyperphosphatasemia Tarda
Spondyloepiphyseal Dysplasia, Late
Myotonic Chondrodystrophy
Melnick-Needles Osteodysplasty
Spondyloepiphyseal Dysplasia Tarda, X Linked
Late-Onset Spondyloepiphyseal Dysplasia
Osteodysplasty, Melnick-Needles
Osteochondrodysplasia
Osteodysplasty of Melnick and Needles
Late Spondyloepiphyseal Dysplasia
Myotonia, Chondrodystrophic
Schwartz Jampel Syndrome
Endosteal Hyperostosis, Autosomal Recessive
SJA Syndrome
Dyschondroplasia
Melnick Needles Osteodysplasty
Dyschondroplasias
X-Linked Spondyloepiphyseal Dysplasia Tarda
Melnick-Needles Syndrome
Spondyloepiphyseal Dysplasia, Late-Onset
See more
See less
|
| prefLabel | Osteochondrodysplasias
|
| TH |
OMIM (2013)
NLM (2012)
UNK (19XX)
NLM (1985)
GHR (2014)
NLM (2014)
NLM (2011)
ORD (2010)
See more
See less
|
| notation | D010009
|
| DX | 19850101
|
| Machine permutation | 85; DYSCHONDRODYSPLASIAS was heading DYSCHONDROPLASIA 1963-84; SPONDYLEPIPHYSEAL DYSPLASIA was see MUCOPOLYSACCHARIDOSIS 4 1980-84, was see ECCENTROOSTEOCHONDRODYSPLASIA 1968-79
|
| MN |
C16.320.728
C05.116.099.708
|
| MMR | 20181010
|
| Mapped from |
See more
See less
|
| AQL | BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN | 85; DYSCHONDRODYSPLASIAS was heading DYSCHONDROPLASIA 1963-84; SPONDYLOEPIPHYSEAL DYSPLASIA was see MUCOPOLYSACCHARIDOSIS 4 1980-84, was see ECCENTROOSTEOCHONDRODYSPLASIA 1968-79
|
| subClassOf | |
| Semantic type UMLS property | |
| DC | 1
|
| MDA | 19840406
|
| type | |
| tui |
T047
T019
|
| cui |
C0036391
C0038015
C3541456
C0029422
C0432272
C0026760
C0025237
C0013366
C4551479
See more
See less
|
| Inverse of AQ |
See more
See less
|
| OL | use OSTECHONDRODYSPLASIAS to search DYSCHONDROPLASIAS 1966-84; use MUCOPOLYSACCHARIDOSIS 4 to search SPONDYLOEPIPHYSEAL DYSPLASIA 1968-84
|
| TERMUI |
T832210
T842778
T832211
T842473
T811888
T812376
T029631
T843034
T769543
T842475
T029625
T842776
T843033
T800716
T843032
T811889
T811885
T811886
T029630
T812375
T800717
T029626
T029624
T029628
T812377
T746297
T823209
T029629
T769544
T029627
See more
See less
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |