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 suprabasal subtype of epidermolysis bullosa simplex characterised by generalised oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the aortic valve without removing the old, damaged valve.	Concept non-current
A surgical cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the previously replaced aortic valve without removing the old, damaged valve or the previously replaced valve.	Outdated component (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve without removing the old, damaged valve by wedging a replacement valve (within a stent) by wedging a replacement valve (within a stent) into the place of the aortic valve.	Erroneous component (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve without removing the old, damaged valve by wedging a replacement valve (within a stent) into the aortic valve’s place.	Erroneous component (foundation metadata concept)
A surgically correctable form of primary hyperaldosteronism characterised by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalaemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The aetiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalaemia in most patients.	Outdated component (foundation metadata concept)
A surgically correctable form of primary hyperaldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The etiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients.	Outdated component (foundation metadata concept)
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.	Outdated component (foundation metadata concept)
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.	Outdated component (foundation metadata concept)
A syndrome of intellectual disability/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.	Outdated component (foundation metadata concept)
A syndrome of mental retardation/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.	Outdated component (foundation metadata concept)
A syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Outdated component (foundation metadata concept)
A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Outdated component (foundation metadata concept)
A teratogenic disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism.	Outdated component (foundation metadata concept)
A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognised.	Erroneous component (foundation metadata concept)
A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognized.	Erroneous component (foundation metadata concept)
A topical route that begins on the skin and has the propensity for systemic absorption via the dermal layer.	Nonconformance to editorial policy component (foundation metadata concept)
A topical route that begins on the skin and that has the propensity to be absorbed through the skin.	Nonconformance to editorial policy component (foundation metadata concept)
A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair in order to obtain a local effect.	Nonconformance to editorial policy component (foundation metadata concept)
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of Von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive.	Grammatical description error (foundation metadata concept)
A transplantation where the donor and recipient spots are part of genetically identical organisms	Grammatical description error (foundation metadata concept)
A transplantation where the donor and recipient spots are part of the same organism	Outdated component (foundation metadata concept)
A tree nut from the butternut tree, Juglans cinerea,	Erroneous component (foundation metadata concept)
A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive.	Outdated component (foundation metadata concept)
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalised tonic–clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalised spike-wave with a normal background.	Nonconformance to editorial policy component (foundation metadata concept)
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic–clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background.	Nonconformance to editorial policy component (foundation metadata concept)
A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid haemorrhage.	Outdated component (foundation metadata concept)
A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid hemorrhage.	Outdated component (foundation metadata concept)
A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.	Outdated component (foundation metadata concept)
A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern.	Outdated component (foundation metadata concept)
A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalised weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	Outdated component (foundation metadata concept)
A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	Outdated component (foundation metadata concept)
A type of nemaline myopathy with characteristics of distal muscle weakness and sometimes slowness of muscle contraction. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. This form of nemaline myopathy is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes. Transmission follows an autosomal dominant pattern.	Outdated component (foundation metadata concept)
A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.	Outdated component (foundation metadata concept)
A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.	Outdated component (foundation metadata concept)
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia.	Outdated component (foundation metadata concept)
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goitre is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia.	Outdated component (foundation metadata concept)
A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period.	Outdated component (foundation metadata concept)
A unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	Outdated component (foundation metadata concept)
A unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, greyish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	Outdated component (foundation metadata concept)
A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.	Outdated component (foundation metadata concept)
A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.	Outdated component (foundation metadata concept)
A variant of autosomal dominant optic atrophy associating typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. The phenotypes observed in ADOA plus are thus related to mitochondrial DNA instability resulting in multiple mitochondrial DNA deletions. Transmission is autosomal dominant with variable penetrance.	Outdated component (foundation metadata concept)
A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.	Outdated component (foundation metadata concept)
A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behaviour.	Outdated component (foundation metadata concept)
A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the centre but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Aetiology is unknown.	Outdated component (foundation metadata concept)
A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Etiology is unknown.	Outdated component (foundation metadata concept)
A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.	Outdated component (foundation metadata concept)
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.	Outdated component (foundation metadata concept)
A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.	Outdated component (foundation metadata concept)
A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.	Outdated component (foundation metadata concept)
A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.	Outdated component (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported.	Concept non-current
A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported.	Outdated component (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.	Concept non-current
A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.	Outdated component (foundation metadata concept)
A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Outdated component (foundation metadata concept)
A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	Concept non-current
A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).	Outdated component (foundation metadata concept)
A very rare bone disease reported in two siblings with characteristics of bowed tibia, hypoplastic thumbs, multiple fractures, distinctive facial features and developmental delay. There have been no further descriptions in the literature since 1993.	Concept non-current
A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20.	Outdated component (foundation metadata concept)
A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	Outdated component (foundation metadata concept)
A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.	Outdated component (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.	Concept non-current
A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.	Concept non-current
A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions.	Outdated component (foundation metadata concept)
A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait.	Outdated component (foundation metadata concept)
A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.	Outdated component (foundation metadata concept)
A very rare congenital malformation characterised by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening haemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The aetiology of congenital cardiac diverticulum is not known. Haemodynamic factors may play a role.	Outdated component (foundation metadata concept)
A very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The etiology of congenital cardiac diverticulum is not known. Hemodynamic factors may play a role.	Outdated component (foundation metadata concept)
A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported.	Outdated component (foundation metadata concept)
A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.	Outdated component (foundation metadata concept)
A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.	Outdated component (foundation metadata concept)
A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.	Outdated component (foundation metadata concept)
A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.	Outdated component (foundation metadata concept)
A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995.	Outdated component (foundation metadata concept)
A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.	Outdated component (foundation metadata concept)
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.	Outdated component (foundation metadata concept)
A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia.	Outdated component (foundation metadata concept)
A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia.	Outdated component (foundation metadata concept)
A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported.	Outdated component (foundation metadata concept)
A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported.	Outdated component (foundation metadata concept)
A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported.	Outdated component (foundation metadata concept)
A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	Outdated component (foundation metadata concept)
A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.	Outdated component (foundation metadata concept)
A very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date. The disease has manifestations of adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet.	Outdated component (foundation metadata concept)
A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype	Outdated component (foundation metadata concept)
A very rare inherited condition with characteristics of grossly enlarged canine and molar teeth (globodontia) associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity.	Outdated component (foundation metadata concept)
A very rare inherited form of thyroglossal duct cyst (TDC) with characteristics of a mass measuring 3cm in diameter or less in the midline area of the neck.	Outdated component (foundation metadata concept)
A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	Outdated component (foundation metadata concept)
A very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.	Outdated component (foundation metadata concept)
A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested.	Outdated component (foundation metadata concept)
A very rare malignant epithelial neoplasm of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.	Outdated component (foundation metadata concept)
A very rare malignant epithelial tumor of the pancreas characterized, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with hemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.	Outdated component (foundation metadata concept)
A very rare malignant epithelial tumour of the pancreas characterised, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with haemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.	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)