| Members |
languageDialectCode |
typeId |
value |
| X-linked intellectual disability Cilliers type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Cilliers type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Hedera type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Hedera type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Miles Carpenter type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Miles Carpenter type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Pai type |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Pai type |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Schimke type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Schimke type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Shrimpton type |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Shrimpton type |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Siderius type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Siderius type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stevenson type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stevenson type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stocco Dos Santos type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stocco Dos Santos type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stoll type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Stoll type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Van Esch type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Van Esch type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Wilson type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability Wilson type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with ataxia and apraxia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with ataxia and apraxia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with cerebellar hypoplasia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with cerebellar hypoplasia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lethal multiple pterygium syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lethal multiple pterygium syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lymphoproliferative disease due to XIAP deficiency |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked lymphoproliferative disease due to XIAP deficiency |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked mandibulofacial dysostosis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked mandibulofacial dysostosis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked mendelian susceptibility to mycobacterial disease (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked mendelian susceptibility to mycobacterial disease (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked myopathy with excessive autophagy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked myopathy with excessive autophagy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked neurodegenerative syndrome Bertini type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked neurodegenerative syndrome Bertini type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked non progressive cerebellar ataxia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked non progressive cerebellar ataxia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked parkinsonism with spasticity syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked parkinsonism with spasticity syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked retinal dysplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked retinal dysplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked severe congenital neutropenia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked severe congenital neutropenia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked sideroblastic anaemia with spinocerebellar ataxia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked sideroblastic anaemia with spinocerebellar ataxia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked spastic paraplegia type 2 (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked spastic paraplegia type 2 (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| X-linked spastic paraplegia type 34 |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]