Omphalocele

Symptom Information:

Symptom ID: HPO:0001539
Synonyms:
Omphalocoele [HPO:0001539]
Congenital omphalocele [HPO:0001539]
Congenital omphalocele (disorder) [Orphanet:17220]
Congenital exomphalos (disorder) [Orphanet:17220]
Congenital exomphalos [Orphanet:17220]
Congenital omphalocele [Orphanet:17220]
Omphalocele [OMIM:Omphalocele]
Omphalocele/exomphalos [Orphanet:17220]
Omphalocoele [Orphanet:17220]
Exomphalos [Orphanet:17220]
Umbilical hernia [Orphanet:17220]
Exomphalos [MedDRA:10015677]
Omphalocele [MedDRA:10015677]
Omphalocoele [MedDRA:10015677]
Umbilical hernia [MedDRA:10045458]
Para-umbilical hernia [MedDRA:10045458]
Umbilical hernia NOS [MedDRA:10045458]
Umbilical hernia without mention of obstruction or gangrene [MedDRA:10045458]
Omphalocele (exomphalos) [OMIM:Omphalocele (exomphalos)]
Omphalocele (in some patients) [OMIM:Omphalocele (in some patients)]
Omphalocele (males) [OMIM:Omphalocele (males)]
Omphalocele (rare) [OMIM:Omphalocele (rare)]
Omphalocele (rare, in males) [OMIM:Omphalocele (rare, in males)]
Omphalocele. [OMIM:Omphalocele.]
Umbilical hernia (32%) [OMIM:Umbilical hernia (32%)]
Umbilical hernia (in some patients) [OMIM:Umbilical hernia (in some patients)]
Umbilical hernia (rare) [OMIM:Umbilical hernia (rare)]
Umbilical hernias [MedDRA:10045459]
Quality:
Cross references:
Orphanet:17220 "Omphalocele/exomphalos" [Orphanet:17220]
OMIM: "Omphalocele" [OMIM:Omphalocele]
OMIM: "Omphalocele (exomphalos)" [OMIM:Omphalocele (exomphalos)]
OMIM: "Omphalocele (in some patients)" [OMIM:Omphalocele (in some patients)]
OMIM: "Omphalocele (males)" [OMIM:Omphalocele (males)]
OMIM: "Omphalocele (rare)" [OMIM:Omphalocele (rare)]
OMIM: "Omphalocele (rare, in males)" [OMIM:Omphalocele (rare, in males)]
OMIM: "Omphalocele." [OMIM:Omphalocele.]
OMIM: "Umbilical hernia (32%)" [OMIM:Umbilical hernia (32%)]
OMIM: "Umbilical hernia (in some patients)" [OMIM:Umbilical hernia (in some patients)]
OMIM: "Umbilical hernia (rare)" [OMIM:Umbilical hernia (rare)]
UMLS:C0795690 "Omphalocele" [HPO:0001539]
UMLS:C1306503 "Congenital exomphalos" [Orphanet:17220]
UMLS:C0795690 "Congenital omphalocele" [Orphanet:17220]
Is a (Direct Parents):
Orphanet Abnormality of the abdominal wall
MedDRA Umbilical hernia
MedDRA Abdominal hernias and other abdominal wall conditions
HPO         Hernia of the abdominal wall
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of connective tissue(HPO:0003549)
          Hernia(HPO:0100790)
             Hernia of the abdominal wall(HPO:0004299)
                Omphalocele(HPO:0001539)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal wall(HPO:0004298)
             Abdominal wall defect(HPO:0010866)
                Hernia of the abdominal wall(HPO:0004299)
                   Omphalocele(HPO:0001539)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Abdominal hernias and other abdominal wall conditions(MedDRA:10000073)
       Omphalocele(HPO:0001539)
       Umbilical hernia(HPO:0001537)
          Omphalocele(HPO:0001539)
Database Frequency: 102 / 7739
Resource:

All diseases associated with this symptom:

3MC SYNDROME 1 (OMIM:257920)
ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
Ablepharon macrostomia syndrome (Orphanet:920)
Acalvaria (Orphanet:945)
Acrocephalopolydactyly (Orphanet:221054)
Acrocephalosyndactyly (Orphanet:946)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to 11p15 microduplication (Orphanet:96076)
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion (Orphanet:231130)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 (Orphanet:96193)
Bladder exstrophy (Orphanet:93930)
Boomerang dysplasia (Orphanet:1263)
C syndrome (Orphanet:1308)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CHARGE syndrome (Orphanet:138)
COCOON SYNDROME (OMIM:613630)
CODAS syndrome (Orphanet:1458)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Cantrell pentalogy (Orphanet:1335)
Carpenter syndrome (Orphanet:65759)
Caudal duplication (Orphanet:1756)
Cloacal exstrophy (Orphanet:93929)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Colonic atresia (Orphanet:1198)
Constriction rings syndrome (Orphanet:295000)
Craniorachischisis (Orphanet:63260)
Dent disease type 2 (Orphanet:93623)
Diabetic embryopathy (Orphanet:1926)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Distal trisomy 15q (Orphanet:1707)
Donnai-Barrow syndrome (Orphanet:2143)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Exstrophy-epispadias complex (Orphanet:322)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Fetal valproate syndrome (Orphanet:1906)
Fibrochondrogenesis (Orphanet:2021)
Floating-Harbor syndrome (Orphanet:2044)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
Fryns syndrome (Orphanet:2059)
Greenberg dysplasia (Orphanet:1426)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Hydrolethalus (Orphanet:2189)
Hypertelorism, Teebi type (Orphanet:1519)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Iniencephaly (Orphanet:63259)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Isolated trigonocephaly (Orphanet:3366)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Lethal omphalocele-cleft palate syndrome (Orphanet:2736)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
MACS syndrome (Orphanet:217335)
Marshall-Smith syndrome (Orphanet:561)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 2 (OMIM:603194)
Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet:2241)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 9p (Orphanet:261112)
Multiple intestinal atresia (Orphanet:2300)
OMPHALOCELE, AUTOSOMAL (OMIM:164750)
OMPHALOCELE, X-LINKED (OMIM:310980)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Oculotrichoanal syndrome (Orphanet:2717)
Omphalocele (Orphanet:660)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PAGOD syndrome (Orphanet:991)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Pseudodiastrophic dysplasia (Orphanet:85174)
Schisis association (Orphanet:63862)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
TRIGONOCEPHALY 1 (OMIM:190440)
Terminal transverse defects of arm (Orphanet:93937)
Tetrasomy 12p (Orphanet:884)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Triploidy (Orphanet:3376)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
VACTERL/VATER association (Orphanet:887)