| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniosynostosis Boston type (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cerebrooculonasal syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ehlers-Danlos syndrome musculocontractural type (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniosynostosis Boston type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Filippi syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Frank-Ter Haar syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Magnetic resonance imaging of face without contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| MRI of face and orbit with contrast |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chudley Lowry Hoar syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| CODAS syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fine Lubinsky syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hall Riggs syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short stature with webbed neck and congenital heart disease syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
| MRI of face and orbit without contrast |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Holmes Gang syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Juberg Marsidi syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Puerto Rican infant hypotonia syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Schilbach Rott syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Syndrom des akromegaloiden Gesichtes mit Hypertrichose |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Robinow-like syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acrofrontofacionasal dysostosis type 2 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Joubert syndrome with orofaciodigital defect |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| MRI of orbit, face and neck without contrast |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Kapur Toriello syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Isotretinoin embryopathy-like syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Magnetic resonance imaging of orbit, face and neck with contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Scholte syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Oculocerebrofacial syndrome Kaufman type |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 10 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 5 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 8 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ichthyose-Hypotrichose-Syndrom |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Toriello Carey syndrome |
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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Perlman syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cyst of face (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| syndrome d'Okamoto |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Faciocardiorenal syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Ramos Arroyo syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Simpson-Golabi-Behmel syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Simpson Golabi Behmel syndrome type 2 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Noonan syndrome-like disorder with loose anagen hair (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pierre Robin sequence faciodigital anomaly syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Nasopalpebral lipoma coloboma syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Polyvalvular heart disease syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Renier Gabreels Jasper syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Diprosopus tetrophthalmus |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Diprosopus (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Opodidymus |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cephalodiprosopus |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Kleefstra syndrome |
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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Janiceps (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Crisponi syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Autosomal recessive faciodigitogenital syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability Buenos Aires type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neurofaciodigitorenal syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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 |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Epilepsy telangiectasia syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Ichthyosis, oral and digital anomalies syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hemifacial hyperplasia strabismus syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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 |
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