Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Renal dysplasia

Synonyms

Kidney dysplasia

Definitions

A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.

ID

http://www.orpha.net/ORDO/Orphanet_93108

alternative_term

Kidney dysplasia

definition

A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108

has_age_of_onset

All ages

Antenatal

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

ICD-10:Q61.4

MedDRA:10038433

ICD-11:LB30.1

UMLS:C3536714

label

Renal dysplasia

notation

ORPHA:93108

part_of

http://www.orpha.net/ORDO/Orphanet_357506

http://www.orpha.net/ORDO/Orphanet_93546

prefixIRI

ORDO:Orphanet_93108

prefLabel

Renal dysplasia

present_in

Europe AND has_point_prevalence_range : Unknown

Europe AND has_birth_prevalence_average_value : 43.5 AND has_birth_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_357506

http://www.orpha.net/ORDO/Orphanet_93546

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_93108 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0000110 HP LOOM
http://nanbyodata.jp/ontology/NANDO_2200161 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019638 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000110 HP LOOM
http://purl.obolibrary.org/obo/HP_0000110 OBA LOOM
rgo:23134 GAMUTS LOOM
rgo:23134 GAMUTS LOOM
http://purl.obolibrary.org/obo/HP_0000110 MAXO LOOM
http://www.semanticweb.org/nic/ontologies/2017/0/untitled-ontology-14#Renal_dysplasia CKDO LOOM
http://purl.jp/bio/4/id/200906087089088792 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00007983 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/RCD/PD04. RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0019638 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/204949001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10/Q61.4 ICD10 LOOM
http://purl.obolibrary.org/obo/HP_0000110 HP LOOM
http://purl.obolibrary.org/obo/HP_0000110 IFAR LOOM
http://purl.obolibrary.org/obo/HP_0000110 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000110 KTAO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004827 OMIM LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Renal_Dysplasia PEDTERM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12165 HRDO LOOM
http://purl.bioontology.org/ontology/ICD9CM/753.15 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/753.15 NLMVS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10038433 MEDDRA LOOM
http://www.gamuts.net/entity#renal_dysplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q61.4 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q61.4 ICD10CM LOOM
http://purl.org/obo/owl/HP#HP_0000110 BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019638 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0000110 OBA LOOM
http://www.gamuts.net/entity#renal_dysplasia GAMUTS REST
http://www.gamuts.net/entity#renal_dysplasia GAMUTS REST
http://www.gamuts.net/entity#renal_dysplasia GAMUTS REST