loading...| Preferred Name | amniotic band syndrome | |
| Synonyms |
Adam Complex terminal transverse defects of arm congenital constricting bands Streeter anomaly CONSTRICTING bands, congenital familial amniotic bands amputation, congenital amniotic band sequence amniotic bands sequence congenital ring constrictions amniotic bands Adam syndrome amniotic deformity-adhesion-mutilation syndrome deformity due to amniotic band constriction band syndrome constriction rings syndrome amniotic band constriction Streeter dysplasia |
|
| Definitions |
A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015167 |
|
| database_cross_reference |
UMLS:C0220724 MEDGEN:66322 Orphanet:295000 NCIT:C84552 Orphanet:1034 SCTID:440214006 icd11.foundation:1033549095 MESH:D000652 OMIM:217100 GARD:429 NORD:766 |
|
| definition |
A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. |
|
| has_exact_synonym |
congenital ring constrictions amniotic bands Adam syndrome amniotic deformity-adhesion-mutilation syndrome deformity due to amniotic band constriction band syndrome constriction rings syndrome amniotic band constriction Streeter dysplasia |
|
| has_related_synonym |
Adam Complex terminal transverse defects of arm congenital constricting bands Streeter anomaly CONSTRICTING bands, congenital familial amniotic bands amputation, congenital amniotic band sequence amniotic bands sequence |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6877 |
|
| id |
MONDO:0015167 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
amniotic band syndrome |
|
| notation |
MONDO:0015167 |
|
| preferred label |
amniotic band syndrome |
|
| prefLabel |
amniotic band syndrome |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_295000 http://identifiers.org/medgen/66322 http://purl.obolibrary.org/obo/NCIT_C84552 http://identifiers.org/mesh/D000652 http://identifiers.org/snomedct/440214006 http://linkedlifedata.com/resource/umls/id/C0220724 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1033549095 |
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| subClassOf |