| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cataract, congenital heart disease, neural tube defect syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spinocerebellar ataxia dysmorphism syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| SCARF syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Weakness of facial muscle as sequela of ischemic cerebrovascular accident |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Weakness of facial muscle as sequela of embolic cerebrovascular accident |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Acute pain in face (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Vascular structure of face |
Is a |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculo-palato-digital syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Floating-Harbor syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Kabuki make-up syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oculo-palato-digital syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chronic orofacial pain (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Complex burn of face |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chronic primary orofacial pain |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Orofacial neuropathic pain (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chronic secondary facial pain (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Craniofaciofrontodigital syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cerebrofacioarticular syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lethal multiple pterygium syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Wiedemann Steiner syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability Wolff type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Dislocation of hip and facial dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Macrocephaly and developmental delay syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Malan overgrowth syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oculomaxillofacial dysostosis |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Otofaciocervical syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Wiedemann Steiner syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oculomaxillofacial dysostosis |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 1 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oro-facial digital syndrome type 12 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Neonatal Marfan syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Keipert syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 14 (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| King Denborough syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macrocephaly and developmental delay syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniodigital syndrome and intellectual disability syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 14 (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oro-facial digital syndrome type 13 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 1 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oro-facial digital syndrome type 13 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| White forelock with malformations syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Neonatal Marfan syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalic primordial dwarfism Montreal type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Nijmegen breakage syndrome-like disorder |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Otopalatodigital syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Otopalatodigital syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lesion of face |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Osteoma of face (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Robin sequence and oligodactyly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalic primordial dwarfism Dauber type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Infantile spasm and broad thumb syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalic primordial dwarfism Alazami type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Prader-Willi-like syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 5p13 microduplication syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 2p13.2 microdeletion syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Edinburgh malformation syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, short stature, hypertelorism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Familial omphalocele syndrome with facial dysmorphism (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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