900000000000490003: Description inactivation indicator attribute value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Attribute value type\Description inactivation indicator reference set

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Description inactivation indicator reference set	Is a	Attribute value type	true	Inferred relationship	Some

Members	valueId
A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnoea.	Outdated component (foundation metadata concept)
A rare genetic retinal disease with characteristics of dried-out soil pattern of the fundus due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularisation or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.	Outdated component (foundation metadata concept)
A rare genetic retinal disease with characteristics of dried-out soil pattern of the fundus due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.	Outdated component (foundation metadata concept)
A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated.	Outdated component (foundation metadata concept)
A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	Outdated component (foundation metadata concept)
A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	Outdated component (foundation metadata concept)
A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects.	Outdated component (foundation metadata concept)
A rare genetic skin disease characterised by congenital generalised anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail or other skin or extracutaneous anomalies are absent.	Outdated component (foundation metadata concept)
A rare genetic skin disease characterised by generalised skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.	Outdated component (foundation metadata concept)
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail or other skin or extracutaneous anomalies are absent.	Outdated component (foundation metadata concept)
A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.	Outdated component (foundation metadata concept)
A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.	Outdated component (foundation metadata concept)
A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces.	Outdated component (foundation metadata concept)
A rare genetic skin tumor disorder characterized by childhood-onset of multiple benign asymptomatic white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	Outdated component (foundation metadata concept)
A rare genetic skin tumour disorder characterised by childhood-onset of multiple benign asymptomatic white to flesh-coloured papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	Outdated component (foundation metadata concept)
A rare genetic spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder with characteristics of childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.	Outdated component (foundation metadata concept)
A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13.	Erroneous component (foundation metadata concept)
A rare genetic syndrome with a central nervous system malformation as a major feature, and characteristics of a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, renal macro and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias and cardiac malformations among others.	Outdated component (foundation metadata concept)
A rare genetic syndrome with a central nervous system malformation as a major feature, and characteristics of a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, renal macro and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, grey matter heterotopias and cardiac malformations among others.	Outdated component (foundation metadata concept)
A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported.	Outdated component (foundation metadata concept)
A rare genetic syndrome with characteristics of cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, along with midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures among others.	Outdated component (foundation metadata concept)
A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet.	Outdated component (foundation metadata concept)
A rare genetic syndrome with limb malformations as a major feature with characteristics of unilateral or bilateral split-foot malformation, nail abnormalities of the hand and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioural abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioural problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures. The disorder is autosomal dominant and whilst most cases arise sporadically, parental mosaicism is not exceptional. Caused by haploinsufficiency of the SOX5 gene (12p12.1) due to either a 12p12.1 microdeletion encompassing the gene or heterozygous point variants.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder/behavioural issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged or dysplastic basal ganglia and hippocampal dysplasia.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behaviour problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioural problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioural problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioral abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures. The disorder is autosomal dominant and whilst most cases arise sporadically, parental mosaicism is not exceptional. Caused by haploinsufficiency of the SOX5 gene (12p12.1) due to either a 12p12.1 microdeletion encompassing the gene or heterozygous point variants.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder/behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged or dysplastic basal ganglia and hippocampal dysplasia.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioral problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delay, with absent speech, axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down or upslanting palpebral fissures, malar hypoplasia, large malformed ears with over-folded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia).	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency and optic atrophy among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination and thin corpus callosum.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability and mild dysmorphic features.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioural difficulties and seizures.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.	Outdated component (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphism (including plagiocephaly/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	Outdated component (foundation metadata concept)
A rare genetic syndromic intestinal disorder characterised by congenital onset of severe watery diarrhoea containing high concentrations of sodium, hyponatraemia and metabolic acidosis, and generally, unilateral or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly. The disorder is due to homozygous or compound-heterozygous mutations in serine peptidase inhibitor, Kunitz type 2 (SPINT2; encoded by SPINT2, 19q13.2), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhoea. The pattern of inheritance is autosomal recessive (AR) for SPINT2 mutations. The risk of disease transmission to offspring for AR disease is 25% where both parents are unaffected carriers.	Outdated component (foundation metadata concept)
A rare genetic syndromic intestinal disorder characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, unilateral or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly. The disorder is due to homozygous or compound-heterozygous mutations in serine peptidase inhibitor, Kunitz type 2 (SPINT2; encoded by SPINT2, 19q13.2), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhea. The pattern of inheritance is autosomal recessive (AR) for SPINT2 mutations. The risk of disease transmission to offspring for AR disease is 25% where both parents are unaffected carriers.	Outdated component (foundation metadata concept)
A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).	Outdated component (foundation metadata concept)
A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).	Outdated component (foundation metadata concept)
A rare genetic systemic or rheumatologic disease with characteristics of infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men.	Outdated component (foundation metadata concept)
A rare genetic systemic or rheumatologic disease with characteristics of interstitial lung disease (often with pulmonary haemorrhage) and inflammatory arthritis, associated with high-titre autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnoea, cough, haemoptysis, and/or joint pain. Some patients may also develop glomerular disease.	Outdated component (foundation metadata concept)
A rare genetic systemic or rheumatologic disease with characteristics of interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.	Outdated component (foundation metadata concept)
A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death.	Outdated component (foundation metadata concept)
A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	Outdated component (foundation metadata concept)
A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-1,000-and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.	Outdated component (foundation metadata concept)
A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.	Outdated component (foundation metadata concept)
A rare germ cell tumour characterised by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumour. The tumours typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumour location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumour stage.	Outdated component (foundation metadata concept)
A rare glial neoplasm with characteristics of extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The neoplasm is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some neoplasms develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure and a variety of neurological deficits. Prognosis is generally poor.	Outdated component (foundation metadata concept)
A rare glial tumor characterized by a grade III oligodendroglial tumor with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.	Outdated component (foundation metadata concept)
A rare glial tumour characterised by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.	Outdated component (foundation metadata concept)
A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	Outdated component (foundation metadata concept)
A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	Outdated component (foundation metadata concept)
A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.	Outdated component (foundation metadata concept)
A rare haematologic disease characterised by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström macroglobulinaemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal haemorrhage, headache, stroke, pulmonary hypertension and congestive heart failure.	Outdated component (foundation metadata concept)
A rare haematologic disease characterised by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 mg/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Symptoms include recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhoea, cardiac arrhythmia, bronchoconstriction and bleeding diathesis.	Outdated component (foundation metadata concept)
A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A rare haemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterised by a haemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A rare haemorrhagic disorder due to an acquired coagulation factor defect characterised by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucous membrane haemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melaena and haematuria.	Outdated component (foundation metadata concept)
A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk Human papillomavirus is most frequently associated with the non-keratinizing type.	Outdated component (foundation metadata concept)
A rare head and neck tumour characterised by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinising, a non-keratinising, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhoea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia and proptosis. Patients with paranasal sinus tumours present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk Human papillomavirus is most frequently associated with the non-keratinising type.	Outdated component (foundation metadata concept)
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension and congestive heart failure.	Outdated component (foundation metadata concept)
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 mg/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Symptoms include recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmia, bronchoconstriction and bleeding diathesis.	Outdated component (foundation metadata concept)
A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melena and hematuria.	Outdated component (foundation metadata concept)
A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	Outdated component (foundation metadata concept)
A rare hepatic and biliary tract tumour, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterised by a substantial keratinisation with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumour and symptoms of adjacent organ involvement.	Outdated component (foundation metadata concept)
A rare hepatic disease characterised by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognised biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	Outdated component (foundation metadata concept)
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	Outdated component (foundation metadata concept)
A rare hepatic disease with characteristics of graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the hepatitis B surface antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.	Outdated component (foundation metadata concept)
A rare hepatic disease with characteristics of recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.	Outdated component (foundation metadata concept)
A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest.	Outdated component (foundation metadata concept)
A rare hepatic tumour that may manifest with abdominal pain or fullness, as well as diarrhoea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The aetiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest.	Outdated component (foundation metadata concept)
A rare hereditary angio-oedema characterised by potentially life-threatening episodes of subcutaneous and/or submucosal oedema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angio-oedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting oedema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle or joint swelling may occur in some cases.	Outdated component (foundation metadata concept)
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle or joint swelling may occur in some cases.	Outdated component (foundation metadata concept)
A rare hereditary ataxia with characteristics of delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	Outdated component (foundation metadata concept)
A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures.	Outdated component (foundation metadata concept)
A rare hereditary haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	Outdated component (foundation metadata concept)
A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	Outdated component (foundation metadata concept)
A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.	Outdated component (foundation metadata concept)
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterised by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumour cells, a more heterogeneous tumour architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	Outdated component (foundation metadata concept)
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	Outdated component (foundation metadata concept)
A rare hereditary palmoplantar keratoderma with characteristics of focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, dis-adhesion of cells in the suprabasal layers, elongation of rete ridges and sparse lymphocyte infiltration in the dermis.	Outdated component (foundation metadata concept)
A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases.	Outdated component (foundation metadata concept)
A rare hereditary sensory and autonomic neuropathy characterised by congenital insensitivity to pain, general hypaesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	Outdated component (foundation metadata concept)

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001069012	Description inactivation indicator attribute value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001070013	Description inactivation indicator reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)