| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Jawad 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 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Syndrom des akromegaloiden Gesichtes mit Hypertrichose |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Perlman syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Xq28-Duplikationssyndrom, proximales |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ichthyose-Hypotrichose-Syndrom |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Puerto Rican infant hypotonia syndrome (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 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oculocerebrofacial syndrome Kaufman type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Renier Gabreels Jasper syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive faciodigitogenital syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrofrontofacionasal dysostosis type 2 |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| FG syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Renal dysplasia with limb defect syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bohring Opitz syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Epilepsy telangiectasia syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 15q overgrowth syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Isotretinoin embryopathy-like syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neurofaciodigitorenal syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Robinow-like syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lethal faciocardiomelic dysplasia (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Short stature with webbed neck and congenital heart disease syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cataract, congenital heart disease, neural tube defect syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Filippi syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cerebrooculonasal syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| SCARF syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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 |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oral-facial-digital syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ehlers-Danlos syndrome musculocontractural type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tel Hashomer camptodactyly syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Camptodactyly syndrome Guadalajara type 1 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Branchioskeletogenital syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Nasopalpebral lipoma coloboma syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Biopsy of face and neck using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Biopsy of face and neck using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ultrasonography of face and neck (procedure) |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Thakker Donnai syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Zechi Ceide syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Roifman syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 9q31.1q31.3 microdeletion syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Robinow syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Flat face, microstomia, ear anomaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Emery Nelson syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Needle stick injury of cheek |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Needle stick injury of nose (disorder) |
Finding site |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Temple syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lethal polymalformative syndrome Boissel type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| os maxillofaciaux |
Is a |
False |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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