Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Amniotic band syndrome
Synonyms

Amniotic band sequence

Congenital constriction ring syndrome

Constriction band syndrome

Streeter dysplasia

Congenital ring constrictions

ABS

Definitions

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.

ID

http://www.orpha.net/ORDO/Orphanet_295000

alternative_term

Amniotic band sequence

Congenital constriction ring syndrome

Constriction band syndrome

Streeter dysplasia

Congenital ring constrictions

ABS

definition

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295000

hasDbXref

MeSH:D000652

ICD-10:Q79.8

UMLS:C0002636

ICD-11:LD26.5

MedDRA:10064100

OMIM:217100

label

Amniotic band syndrome

notation

ORPHA:295000

part_of

http://www.orpha.net/ORDO/Orphanet_498461

http://www.orpha.net/ORDO/Orphanet_2416

prefixIRI

ORDO:Orphanet_295000

prefLabel

Amniotic band syndrome

treeView

http://www.orpha.net/ORDO/Orphanet_498461

http://www.orpha.net/ORDO/Orphanet_2416

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_295000 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_295000 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_295000 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015167 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84552 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Amniotic_Band_Syndrome CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002636 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000652 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84552 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064100 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14681 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.042 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0015167 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015167 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015167 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015167 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015167 DOVES LOOM
http://purl.obolibrary.org/obo/OMIT_0002067 OMIT LOOM
http://purl.jp/bio/4/id/200906066160568540 IOBC LOOM
rgo:19263 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036768 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D000652 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1039 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Amniotic_Band_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01566 SNMI LOOM