PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Skeletal Dysplasia

Synonyms
Definitions

A general term describing features characterized by abnormal development of bones and connective tissues.

ID

http://www.phoc.org.cn/pmo/class/PMO_00013956

Database_Cross_Reference

SNM:M-74500

ICD10:Q78.9

SNOMEDCT_US:205510001

MTH:NOCODE

RCD:X70Bq

SNMI:D4-00A00

ICD10AM:Q78.9

NCI_NICHD:C84978

HPO:HP:0002652

MSH:D010009

SNOMEDCT_US:105985007

OMIM:MTHU041797

NDFRT:N0000002249

NCI:C84978

SNMI:D6-70240

MEDCIN:330547

SNM:U000377

SNOMEDCT_US:240190009

ICD10CM:Q78.9

SNOMEDCT_US:378007

Definition

A general term describing features characterized by abnormal development of bones and connective tissues.

equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00036719

label

Skeletal Dysplasia

MCID

MC00009283

PMOID

PMO:00013956

prefixIRI

pmo:PMO_00013956

prefLabel

Skeletal Dysplasia

Synonym

4-00A OSTEOCHONDRODYSPLASIA SYNDROMES

Osteochondrodysplasias

osteochondrodysplasia (diagnosis)

Osteochondrodysplasia, unspecified

Osteochondrodysplasia syndrome (disorder)

Osteochondrodysplasia (disorder)

Skeletal dysplasia

Osteochondrodysplasia syndrome

Osteochondrodysplasia, NOS

OSTEOCHONDRODYSPLASIA SYNDROMES

Congenital Skeletal Dysplasia

Osteochondrodysplasia

Osteochondrodysplasias [Disease/Finding]

Tree Number

T3.15.4.8

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00011671

http://www.phoc.org.cn/pmo/class/PMO_00037611

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