Congenital diaphragmatic hernia

Symptom Information:

Symptom ID: HPO:0000776
Synonyms:
Diaphragmatic hernia [HPO:0000776]
Congenital diaphramatic hernia [Orphanet:32440]
Congenital diaphragmatic hernia [OMIM:Congenital diaphragmatic hernia]
Diaphragmatic hernia [OMIM:Diaphragmatic hernia]
Diaphragmatic hernia/defect/agenesis [Orphanet:32440]
Diaphragmatic hernia (in some patients) [OMIM:Diaphragmatic hernia (in some patients)]
Diaphragmatic hernia (less common) [OMIM:Diaphragmatic hernia (less common)]
Diaphragmatic hernia (rare) [OMIM:Diaphragmatic hernia (rare)]
Diaphragmatic hernias [MedDRA:10012714]
Congenital diaphragmatic hernia [MedDRA:10010439]
Diaphragmatic hernia [MedDRA:10012713]
Quality:
Cross references:
Orphanet:32440 "Diaphragmatic hernia/defect/agenesis" [Orphanet:32440]
OMIM: "Congenital diaphragmatic hernia" [OMIM:Congenital diaphragmatic hernia]
OMIM: "Diaphragmatic hernia" [OMIM:Diaphragmatic hernia]
OMIM: "Diaphragmatic hernia (in some patients)" [OMIM:Diaphragmatic hernia (in some patients)]
OMIM: "Diaphragmatic hernia (less common)" [OMIM:Diaphragmatic hernia (less common)]
OMIM: "Diaphragmatic hernia (rare)" [OMIM:Diaphragmatic hernia (rare)]
Is a (Direct Parents):
MedDRA Abdominal hernias and other abdominal wall conditions
HPO         Hernia
Orphanet Abnormality of the diaphragm
HPO         Abnormality of the diaphragm
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of connective tissue(HPO:0003549)
          Hernia(HPO:0100790)
             Congenital diaphragmatic hernia(HPO:0000776)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the diaphragm(HPO:0000775)
             Congenital diaphragmatic hernia(HPO:0000776)
       Abnormality of the respiratory system(HPO:0002086)
          Abnormal respiratory system morphology(HPO:0012252)
             Abnormality of the diaphragm(HPO:0000775)
                Congenital diaphragmatic hernia(HPO:0000776)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Abdominal hernias and other abdominal wall conditions(MedDRA:10000073)
       Congenital diaphragmatic hernia(HPO:0000776)
Database Frequency: 36 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
1q41q42 microdeletion syndrome (Orphanet:250999)
Acro-renal-mandibular syndrome (Orphanet:958)
Arterial tortuosity syndrome (Orphanet:3342)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Cantrell pentalogy (Orphanet:1335)
Coffin-Siris syndrome (Orphanet:1465)
Congenital diaphragmatic hernia (Orphanet:2140)
Cornelia de Lange syndrome (Orphanet:199)
Craniofrontonasal dysplasia (Orphanet:1520)
Cutis laxa-Marfanoid syndrome (Orphanet:171719)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAPHRAGMATIC HERNIA 2 (OMIM:222400)
DIAPHRAGMATIC HERNIA 3 (OMIM:610187)
Denys-Drash syndrome (Orphanet:220)
Diabetic embryopathy (Orphanet:1926)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Donnai-Barrow syndrome (Orphanet:2143)
EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA (OMIM:226735)
Emanuel syndrome (Orphanet:96170)
Focal dermal hypoplasia (Orphanet:2092)
HERNIA, ANTERIOR DIAPHRAGMATIC (OMIM:306950)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Matthew-Wood syndrome (Orphanet:2470)
Perlman syndrome (Orphanet:2849)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Tetrasomy 12p (Orphanet:884)