Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Computed tomography of head and cervical spine (procedure) |
Procedure site - Direct (attribute) |
True |
Head structure |
Inferred relationship |
Some |
2 |
Iniencephaly (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Iniencephaly - open |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Iniencephaly - closed |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Needle stick of scalp (disorder) |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Needle stick injury of forehead |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Needle stick injury of ear region |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Lipoma of head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Neonatal scalp injury |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Neonatal bruising of scalp |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Dithoracic parapagus |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
3 |
Dicephalic parapagus |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Subdural hemorrhage following open wound of head (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Fishing hook in head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Intraoperative fixation of head using head fixation device (procedure) |
Procedure site - Direct (attribute) |
True |
Head structure |
Inferred relationship |
Some |
1 |
Traumatic subdural hematoma with open intracranial wound |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
1 |
Injury of head with otorrhagia |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
1 |
Dermoid cyst of head (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Insertion of drain into head using cone beam computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Head structure |
Inferred relationship |
Some |
1 |
Head normal |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Intracranial hemorrhage co-occurrent and due to complex wound of head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Swab from head (specimen) |
Specimen source topography (attribute) |
True |
Head structure |
Inferred relationship |
Some |
1 |
almindelig billeddannelse af øje |
Procedure site - Direct (attribute) |
False |
Head structure |
Inferred relationship |
Some |
1 |
Tenderness of head and neck region |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
3 |
Crush injury of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Acephalostomia |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Nail wound of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Puncture wound of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
High head at term |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Højt hoved ved termin med prænatalt problem |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Head not engaged |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal head moulding |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal floating head flexion |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Well flexed fetal head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Ballottement of fetal head at fundus |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Fetal head flexed (finding) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal head partially flexed |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal lateroflexion |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal universal flexion |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Deflexed fetal head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Ballottement of fetal head abdominally |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Ballottement of fetal head in suprapubic area |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Ballottement of fetal head vaginally |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal head extended |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Finding related to flexion of fetal head (finding) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Neurofibroma of head (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. More commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal epignathus with conjoined twins (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Head and neck injury |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Superficial injury to head, excluding eye |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Corrosion of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Corrosion of first degree of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Corrosion of second degree of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Animal bite of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Cut of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Infected insect bite of head and neck (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Human bite of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Dog bite of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Insect bite of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Laceration of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Pellet wound of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Superficial injury of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Superficial traumatic blister of head and neck |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Open wound of head, neck and trunk |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Acephalobrachius |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Headache caused by high altitude (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumour size) including obstructive polyhydramnios in the prenatal period and dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Unilateral headache (finding) |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
1 |
Face mask squeeze |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Primary leiomyosarcoma of head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Fetal microcephaly (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Primary adenocarcinoma of head |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Endoscopic procedure of head and neck (procedure) |
Procedure site - Direct (attribute) |
True |
Head structure |
Inferred relationship |
Some |
2 |
Occipitofrontal circumference greater than two standard deviations above the mean for a given age, sex or gestation (i.e. equal to or greater than the 97th percentile). |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Congenital macrocephaly (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
4 |
Primary angiosarcoma of head (disorder) |
Finding site |
False |
Head structure |
Inferred relationship |
Some |
2 |
Primary angiosarcoma of head (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Headache due to exertion |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Primary rhabdomyosarcoma of head (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
3 |
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Amish lethal microcephaly (disorder) |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |
Secondary microcephaly |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
2 |
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Finding site |
True |
Head structure |
Inferred relationship |
Some |
1 |