Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Cerebellar-facial-dental syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
16p12.1p12.3 triplication syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
4q25 proximal deletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Lamb Shaffer syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
12p12.1 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Developmental and speech delay due to SRY-box 5 deficiency (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Oculocerebrodental syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Menke Hennekam syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Radiotherapy to face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Multiple epiphyseal dysplasia Lowry type (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
6 |
Marden Walker syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Abrasion of face |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Triopia |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Swab from face (specimen) |
Specimen source topography |
True |
Face structure |
Inferred relationship |
Some |
1 |
Chronic orofacial pain due to nonvascular intracranial disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to infectious disease |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to temporomandibular joint disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Bite wound of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Autologous graft of rib cartilage to face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Plain X-ray of face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Clark Baraitser syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
KLHL7-related Bohring Opitz-like syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Congenital pontocerebellar hypoplasia type 11 (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Congenital pontocerebellar hypoplasia type 12 |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Facial reconstruction |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
CPE-related Prader-Willi-like syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Malignant melanoma of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Visual observation of face (procedure) |
Procedure site - Direct (attribute) |
False |
Face structure |
Inferred relationship |
Some |
2 |
Congenital facial dysplasia (disorder) |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
|
Congenital facial dysplasia (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Volume defect of face, smaller than 4cm (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Neuropathic pain of face |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Central neuropathic pain of face |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
Persistent idiopathic facial pain |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
|
Volume defect of face, larger than 4cm (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
syndroom van Wiedemann-Steiner |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
Median facial cleft (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Photography of face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Paranasal structure (body structure) |
Is a |
True |
Face structure |
Inferred relationship |
Some |
|
Excision of lentigo maligna melanoma of face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Closure of wound of face after amputation (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Excision of squamous cell carcinoma in situ of skin of face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Transposition of myocutaneous flap to face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Cleaning wound of face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Transplantation of skin pedicle graft to face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Insertion of prosthesis in face (procedure) |
Procedure site - Indirect (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Construction of custom facial prosthesis (procedure) |
Procedure site - Indirect (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Insertion of implant in face (procedure) |
Procedure site - Indirect (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of face due to compression (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Grafting of cartilaginous tissue to face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Central neurogenic pain of face |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
DYRK1A-gerelateerd syndroom van verstandelijke beperking |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
Male craniofacial digital and genital anomalies syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Female craniofacial digital and genital anomalies syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Traumatic injury of thorax and face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Visual observation of face (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |