Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
dysplasie spondylo-épimétaphysaire type Geneviève |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Zechi Ceide syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Roifman syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
9q31.1q31.3 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
13q12.3 microdeletion syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
14q24.1q24.3 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Robinow syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Craniofacial dysplasia osteopenia syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Flat face, microstomia, ear anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Pitt Hopkins-like syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Emery Nelson syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
MRI of head and face with contrast |
Procedure site - Direct (attribute) |
True |
face |
Inferred relationship |
Some |
1 |
Needle stick injury of cheek |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Needle stick injury of nose |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Crush injury, face NOS |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Other face injuries |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
syndrome de Temple |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Lethal polymalformative syndrome Boissel type |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Non-surgical biopsy face NOS |
localisation de l'intervention (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Facial profile finding |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Complexion finding |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
|
Facial appearance finding |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Maxillofacial bone structure |
est un(e) (attribut) |
True |
face |
Inferred relationship |
Some |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Thin ribs, tubular bones, dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
RIDDLE syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Herpes barbae (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
X-linked intellectual disability due to GRIA3 mutations |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Melnick-Needles syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Ultrasonography of paranasal sinuses |
Procedure site - Direct (attribute) |
False |
face |
Inferred relationship |
Some |
1 |
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Stimmler syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
Solitary median maxillary central incisor syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Aneurysm osteoarthritis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
21q22.11q22.12 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Stickler syndrome type 3 (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Potter's facies |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Reunion Island Larsen-like syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Persistent idiopathic facial pain |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Arthrogryposis and ectodermal dysplasia syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Macrocephaly, intellectual disability, autism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Oculoauriculofrontonasal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Acrofrontofacionasal dysostosis type 2 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Femoral hypoplasia - unusual facies syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Leprechaunism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Chemical burn of face (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Hennekam syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Desbuquois syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
Winchester syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Williams syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
5 |
Fragile X syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Neurofibroma of face (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Angelman syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Neu-Laxova syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Marshall-Smith syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Trichorhinophalangeal syndrome type 1 and 3 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Craniofacial deafness hand syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Myhre syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Barber-Say syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
Structure of jaw region of face |
est un(e) (attribut) |
False |
face |
Inferred relationship |
Some |
|
Open wound of jaw with complication |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Open wound of jaw without complication |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Finding related to jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Severely limited jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Limited jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Normal jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Microcephalus with albinism and digital anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
6 |