| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cerebellar-facial-dental syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 16p12.1p12.3 triplication syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 4q25 proximal deletion syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lamb Shaffer syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Developmental and speech delay due to SOX5 deficiency |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Menke Hennekam syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Radiotherapy to face |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Multiple epiphyseal dysplasia Lowry type |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Marden Walker syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Abrasion of face |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Chronic orofacial pain due to disorder |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Triopia |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Swab from face (specimen) |
Specimen source topography |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chronic orofacial pain due to nonvascular intracranial disorder (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Chronic orofacial pain due to infectious disease |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Chronic orofacial pain due to temporomandibular joint disorder (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bite wound of face (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autologous graft of rib cartilage to face |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Plain X-ray of face |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| ALDH18A1-related de Barsy syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Clark Baraitser syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| KLHL7-related Bohring Opitz-like syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital pontocerebellar hypoplasia type 11 (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital pontocerebellar hypoplasia type 12 |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Facial reconstruction |
Procedure site - Direct (attribute) |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Malignant melanoma of face (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Alkuraya Kucinskas syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Narrow face width (finding) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 2p21 microdeletion syndrome without cystinuria (disorder) |
Finding site |
True |
Face structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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