| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Familial omphalocele syndrome with facial dysmorphism (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Open wound of face due to dog bite |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 11p15.4 microduplication syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autism spectrum disorder due to AUTS2 deficiency |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oculodentodigital syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Fine Lubinsky syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Opodidymus |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Arteriovenous malformation of face (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Carpenter Waziri syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hall Riggs syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cephalodiprosopus |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Mohr syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 5 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Janiceps (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pseudoaminopterin syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pettigrew syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Weissenbacher-Zweymuller syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Shprintzen Goldberg omphalocele syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pierre Robin sequence faciodigital anomaly syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Crisponi syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Roberts-SC phocomelia syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ichthyosis, oral and digital anomalies syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acrofrontofacionasal dysostosis (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acro-oto-ocular syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spinocerebellar ataxia dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Faciocardiorenal syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Steinfeld syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Crouzon syndrome with acanthosis nigricans (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oro-facial digital syndrome type 9 (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ophthalmomandibulomelic dysplasia |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Orofacial-digital syndrome III |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Trichorhinophalangeal syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fryns macrocephaly |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Diprosopus tetrophthalmus |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Orofacial-digital syndrome IV |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Diprosopus (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Seaver Cassidy syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acrocephalopolydactyly (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 10 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Jawad syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ramos Arroyo syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Trisomy 10p (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephaly with deafness and intellectual disability syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| syndrome d'Okamoto |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloepiphyseal dysplasia Cantu type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Noonan syndrome-like disorder with loose anagen hair (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Arteriovenous malformation of frontonasal process |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Scholte syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Oro-facial digital syndrome type 8 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Polyvalvular heart disease syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Joubert syndrome with orofaciodigital defect |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cerebro-facio-thoracic dysplasia (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Frontofacionasal dysplasia syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ulna fibula ray defect and brachydactyly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Smith Fineman Myers syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hemifacial hyperplasia strabismus syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrocraniofacial dysostosis (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acromegaloid facial appearance syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis and intracranial calcification syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Short stature Brussels type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Jawad syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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