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1292992004: Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component

Descriptions:

Id Description Lang Type Status Case? Module
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component

8429 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Component annotation with string value reference set (foundation metadata concept) Is a Reference set true Inferred relationship Existential restriction modifier (core metadata concept)
Members languageDialectCode typeId value
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare organic aciduria characterised by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukaemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare organic aciduria characterised by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukaemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3-methylglutaconic aciduria type 8 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3-methylglutaconic aciduria type 8 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3-methylglutaconic aciduria type 9 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3-methylglutaconic aciduria type 9 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3p25.3 deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3p25.3 deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q29 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
3q29 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX disorder of sex development with skeletal anomalies syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX disorder of sex development with skeletal anomalies syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX ovarian dysgenesis, short stature syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX ovarian dysgenesis, short stature syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX ovotesticular disorder of sex development (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XX ovotesticular disorder of sex development (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY disorder of sex development due to isolated 17,20-lyase deficiency en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY disorder of sex development due to isolated 17,20-lyase deficiency en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY ovotesticular disorder of sex development en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY ovotesticular disorder of sex development en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY partial gonadal dysgenesis en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
46,XY partial gonadal dysgenesis en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
48,XYYY syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
48,XYYY syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
49,XYYYY syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
49,XYYYY syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4H leucodystrophy en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4H leucodystrophy en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4p16.3 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4p16.3 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4q21 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4q21 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4q25 proximal deletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
4q25 proximal deletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5-amino-4-imidazole carboxamide ribosiduria (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5-amino-4-imidazole carboxamide ribosiduria (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5p13 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5p13 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5q35 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
5q35 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6p22 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6p22 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6q terminal deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6q terminal deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6q25 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
6q25 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
7p22.1 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
7p22.1 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
7q11.23 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
7q11.23 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%). en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%). en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q12 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q12 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q21.11 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q21.11 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q22.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
8q22.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9p13 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9p13 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9q21.13 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9q21.13 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9q33.3q34.11 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
9q33.3q34.11 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
AH amyloidosis (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
AH amyloidosis (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Ablepharon macrostomia syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Ablepharon macrostomia syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Absence deformity of leg and congenital cataract syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Absence deformity of leg and congenital cataract syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Absent tibia, polydactyly, arachnoid cyst syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet

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