Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
3-phosphoglycerate dehydrogenase deficiency infantile form |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Anonychia with microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Aphalangy and syndactyly with microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant primary microcephaly |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft palate, large ears, small head syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital intrauterine infection-like syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Epley maneuver |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Cutaneous mastocytosis, short stature, hearing loss syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive primary microcephaly |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Deficiency of leukotriene C4 synthase |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Goldberg Shprintzen megacolon syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Filippi syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Primary sarcoma of head |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hydromicrocephaly |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hall Riggs syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Jawad syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalic primordial dwarfism Alazami type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism Dauber type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lowry MacLean syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic osteodysplastic dysplasia Saul Wilson type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism Montreal type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus cardiomyopathy syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus cleft palate syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism of Toriello type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus co-occurrent with cervical spine fusion anomaly |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus with albinism and digital anomaly syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus with cardiac defect and lung malsegmentation syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly with deafness and intellectual disability syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, lymphedema, chorioretinopathy syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly with simplified gyral pattern |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly-capillary malformation syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Neu-Laxova syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Nijmegen breakage syndrome-like disorder |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Oculocerebrofacial syndrome Kaufman type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Oro-facial digital syndrome type 14 |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Oculopalatocerebral syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Prominent glabella with microcephaly and hypogenitalism syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudoprogeria syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Severe X-linked intellectual disability Gustavson type |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Primary leiomyosarcoma of head |
Finding site |
False |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Lethal hydranencephaly, diaphragmatic hernia syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Primary rhabdomyosarcoma of head |
Finding site |
False |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Ultrasonography of head and neck |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Aspiration of head and neck using ultrasonographic guidance |
Procedure site - Indirect |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Aspiration of head and neck using ultrasonographic guidance |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Magnetic resonance imaging of head and neck with contrast |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Magnetic resonance imaging of head and neck |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Taub test |
Procedure site - Direct |
False |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Head and neck contrast procedure |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Removal of foreign body from head and neck using imaging guidance |
Procedure site - Indirect |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Removal of foreign body from head and neck using imaging guidance |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
4 |
Head and neck incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Laryngofissure and cordectomy of vocal cord |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
3 |
Occipital incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Postauricular incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intraoral incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Laryngectomy incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Laryngofissure |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Open - laryngofissure |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Open - laryngectomy incision |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Reconstruction of head and neck using myocutaneous flap |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Computed tomography of head, neck and thorax |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Computed tomography of head, neck and thorax with contrast |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Diagnostic radiography, stereotactic localization in head |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Biopsy of head using computed tomography guidance |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
Reconstruction of head and neck using muscle flap |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microform holoprosencephaly |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Finding site |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
2 |
Local myocutaneous flap to head |
Procedure site - Direct |
True |
Head structure |
Inferred relationship |
Existential restriction modifier |
1 |