Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Renal hypoplasia
Synonyms
Definitions

A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.

ID

http://www.orpha.net/ORDO/Orphanet_93101

definition

A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93101

has_age_of_onset

All ages

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

ICD-10:Q60.3

UMLS:C0266295

ICD-10:Q60.5

ICD-10:Q60.4

ICD-11:LB30.0Y

MedDRA:10049102

label

Renal hypoplasia

notation

ORPHA:93101

part_of

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

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

prefixIRI

ORDO:Orphanet_93101

prefLabel

Renal hypoplasia

present_in

Worldwide AND has_point_prevalence_range : Unknown

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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Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_93101 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_93101 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080204 DOID LOOM
http://purl.obolibrary.org/obo/HP_0000089 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0019637 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0080204 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080204 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080204 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080204 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080204 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080204 FNS-H LOOM
rgo:21366 GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009946 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0000089 HP LOOM
http://purl.obolibrary.org/obo/HP_0000089 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000089 KTAO LOOM
http://purl.obolibrary.org/obo/MP_0003446 MP LOOM
http://purl.obolibrary.org/obo/MP_0003446 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003446 CHIRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049102 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12164 HRDO LOOM
http://purl.bioontology.org/ontology/RCD/PD03. RCD LOOM
http://purl.org/obo/owl/HP#HP_0000089 BDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00007991 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0019637 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019637 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019637 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0266295 OCHV LOOM
http://purl.jp/bio/4/id/200906091398913835 IOBC LOOM
http://www.gamuts.net/entity#renal_hypoplasia GAMUTS REST