Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Left atrial appendage absent |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of tricuspid papillary muscle (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Absent right superior vena cava |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral split foot |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Bilateral split hand |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acardia |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalogaster |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalogaster |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital tibial deficiency type III |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalobrachius (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalobrachius (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital absence of mitral valve (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of nasal turbinate |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of nasal septum |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monophthalmos (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of papillary muscle |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of renal papilla |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of tricuspid valve |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of subclavian artery |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of thyroid gland |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemicentric cervical centrum |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemicentric lumbar centrum |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemicentric sacral centrum |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemicentric thoracic centrum |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hypodontia |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital absence of skeletal bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of liver and gallbladder (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of lung fissures |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of anus with fistula (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of rectum with fistula (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrania |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete phocomelia of upper limb |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyelencephalus (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of spermatic cord (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cor biloculare |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cor biloculare |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acardius (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of metacarpal bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of aortic valve (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of carotid artery |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of ductus arteriosus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete phocomelia of bilateral upper limbs (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemimyelia |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tongue absent |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of inferior vena cava |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of large intestine |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial aphalangia of upper limb |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Podencephalus |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aganglionosis of parasympathetic nerve ganglia (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of upper arm AND forearm |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of upper arm AND forearm |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital absence of muscle AND/OR tendon (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalocheiria |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalocheiria |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acephalocheiria |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Poland anomaly |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of skeletal muscle |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Omocephalus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of coronary sinus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of superior vena cava |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of pectoral muscle (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of small intestine |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hydranencephaly (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hydranencephaly with proliferative vasculopathy |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of auricle with atresia of auditory canal |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemicephaly |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of salivary gland |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Roberts-SC phocomelia syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital absence of membranous labyrinth (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Prune belly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of coronary artery (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of vas deferens (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypogonadism with prune belly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Phocomelia (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of external auditory canal (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal absence of radius AND ulna |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal absence of radius AND ulna |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete congenital absence of thigh AND leg |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acephalorhachia |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acephalorhachia |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Partial congenital absence of limb |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single umbilical cord artery type II |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single umbilical cord artery type I (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single umbilical cord artery type III (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single umbilical cord artery type IV |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Phocomelia of lower limb |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired partial absence of breast (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of bilateral tibias |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of bilateral tibias |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital absence of bilateral ulnas |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital absence of bilateral ulnas |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Absent kidney |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Left kidney absent (finding) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |