| Members |
languageDialectCode |
typeId |
value |
| American Joint Committee on Cancer ypN category allowable value (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN0 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN0(i+) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN0(mol+) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN0a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1a(sn) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN1mi (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN2a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN2b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN2c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN2mi (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN3 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN3a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN3b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypN3c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypNX (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT category allowable value (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT0 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1a1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1a2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1b1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1b2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1b3 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1c1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1c2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1c3 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1d (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT1mi (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2a1 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2a2 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT2d (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT3 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT3a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT3b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT3c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT3d (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4 (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4a (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4b (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4c (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4d (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypT4e (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTX (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTa (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTis (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTis(DCIS) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTis(LAMN) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| American Joint Committee on Cancer ypTis(Paget) (qualifier value) |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging |
| A type of nemaline myopathy (NM) only observed in several families of the Amish community. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course and is associated with a poor prognosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterised by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
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