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 method of administration of a liquid dose form by introducing it into the circulatory system or into a body cavity.	Outdated component (foundation metadata concept)
A method of external massage of the uterus to promote delivery of the placenta	Erroneous component (foundation metadata concept)
A mid-life onset distal myopathy with characteristics of tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified.	Concept non-current
A mid-to-late diastolic murmur heard best at the cardiac apex, heard in cases of aortic insufficiency	Grammatical description error (foundation metadata concept)
A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.	Outdated component (foundation metadata concept)
A mild localised form of skeletal dysplasia characterised by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic.	Outdated component (foundation metadata concept)
A mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic.	Outdated component (foundation metadata concept)
A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner.	Outdated component (foundation metadata concept)
A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance.	Outdated component (foundation metadata concept)
A moderate neonatal form of nemaline myopathy with characteristics of facial and skeletal muscle weakness and mild respiratory involvement. Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life. The disease is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes, and disease transmission can be autosomal recessive or dominant.	Outdated component (foundation metadata concept)
A modular formula consisting of the singular macronutrient carbohydrate which can be mixed with with other modular formula nutrients or nutritionally complete oral or enteral formulas to provide supplemental carbohydrate (Source: Academy of Nutrition and Dietetics Nutrition Informatics Committee 2013).	Nonconformance to editorial policy component (foundation metadata concept)
A modular formula consisting of the singular macronutrient carbohydrate which can be mixed with with other modular formula nutrients or nutritionally complete oral or enteral formulas to provide supplemental carbohydrate.	Grammatical description error (foundation metadata concept)
A modular formula consisting of the singular macronutrient lipid (fat) mixture, typically in the form of highly soluble fats or medium chain fatty acids, which can be mixed with with other modular formula nutrients or nutritionally complete oral or enteral formulas to provide supplemental carbohydrate (Source: Academy of Nutrition and Dietetics Nutrition Informatics Committee 2013).	Nonconformance to editorial policy component (foundation metadata concept)
A modular formula consisting of the singular macronutrient lipid (fat) mixture, typically in the form of highly soluble fats or medium chain fatty acids, which can be mixed with with other modular formula nutrients or nutritionally complete oral or enteral formulas to provide supplemental carbohydrate.	Grammatical description error (foundation metadata concept)
A modular formula consisting of the singular macronutrient protein which can be mixed with other modular formula nutrients or nutritionally complete oral or enteral formulas to provide supplemental protein (Source: Academy of Nutrition and Dietetics Nutrition Informatics Committee 2013).	Nonconformance to editorial policy component (foundation metadata concept)
A motor sensory axonal form of Guillain-Barré syndrome. Patients present with muscle weakness and sensory deficits, similar to that of the more frequent demyelinating form of Guillain-Barré syndrome. As in other types of Guillain-Barré syndrome, an infectious disease precedes the onset of limb weakness in the majority of cases. Although the exact pathological mechanism is poorly understood the disease is associated with the presence of antiganglioside antibodies and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels.	Outdated component (foundation metadata concept)
A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males) and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males) and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome with characteristics of cerebral, ocular, dental, auricular and skeletal anomalies. To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (over folded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia and an unusual facial phenotype.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.	Outdated component (foundation metadata concept)
A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent.	Outdated component (foundation metadata concept)
A multiple congenital anomalies/dysmorphic intellectual disability syndrome with characteristics of feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short broad neck). Additional variable manifestations include obstructive apnea, recurrent pneumonia and seizures.	Outdated component (foundation metadata concept)
A multiple congenital anomalies/dysmorphic intellectual disability syndrome with characteristics of feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short broad neck). Additional variable manifestations include obstructive apnoea, recurrent pneumonia and seizures.	Outdated component (foundation metadata concept)
A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.	Outdated component (foundation metadata concept)
A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.	Outdated component (foundation metadata concept)
A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears).	Outdated component (foundation metadata concept)
A multiple congenital anomaly/mental retardation contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears).	Outdated component (foundation metadata concept)
A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmission	Outdated component (foundation metadata concept)
A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1.	Outdated component (foundation metadata concept)
A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).	Outdated component (foundation metadata concept)
A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).	Outdated component (foundation metadata concept)
A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease.	Outdated component (foundation metadata concept)
A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria.	Outdated component (foundation metadata concept)
A neurodevelopmental disorder with characteristics of global developmental delay, impaired intellectual development and delayed speech. Other variable features include macrocephaly, characteristic facial features, prominent forehead, hypertelorism, hypotonia and joint laxity. The syndrome is inherited in an autosomal dominant manner with evidence the disease is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13.	Outdated component (foundation metadata concept)
A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait.	Concept non-current
A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.	Outdated component (foundation metadata concept)
A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.	Outdated component (foundation metadata concept)
A non-sterile, urine drainage device for men that typically consists of a flexible tube attached to a condom-like sheath. The sheath is fitted over the penis to channel urine, via the tube, into a collection bag.	Concept non-current
A non-syndromic form of craniosynostosis with characteristics of the premature fusion of the metopic suture. The premature closure of the metopic suture results in deformation of the anterior portion of the calvarium and a triangular-shaped forehead. The underlying genetic cause of isolated trigonocephaly remains to be delineated. Most cases are sporadic but familial forms with apparently autosomal dominant transmission have been reported.	Outdated component (foundation metadata concept)
A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait.	Outdated component (foundation metadata concept)
A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait.	Outdated component (foundation metadata concept)
A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene.	Outdated component (foundation metadata concept)
A novel very rare form of pontocerebellar hypoplasia with unknown aetiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apnoeic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	Outdated component (foundation metadata concept)
A novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	Outdated component (foundation metadata concept)
A nutrition counseling technique that involves keeping a detailed record of behaviors that influence diet and/or weight. (Source: International Dietetics and Nutrition Terminology (IDNT) Reference Manual, edition 4; ISBN #978-0-88091-467-3)	Nonconformance to editorial policy component (foundation metadata concept)
A painful restriction of joint motion due to post-traumatic excessive scarring.	Outdated component (foundation metadata concept)
A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools.	Outdated component (foundation metadata concept)
A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools.	Outdated component (foundation metadata concept)
A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney	Erroneous component (foundation metadata concept)
A partial deletion of the long arm of chromosome 4 characterised by complex behavioural difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.	Outdated component (foundation metadata concept)
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.	Outdated component (foundation metadata concept)
A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child.	Outdated component (foundation metadata concept)
A partial monosomy of the long arm of chromosome 9 with characteristics of intellectual disability, developmental delay with pronounced speech delay, short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia and bone malformations, in particular patellar abnormalities, epistaxis and cutaneous-mucous telangiectasia.	Outdated component (foundation metadata concept)
A pathological process consisting of the formation of new blood vessels in the choroid.	Concept non-current
A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q).	Outdated component (foundation metadata concept)
A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q).	Outdated component (foundation metadata concept)
A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta.	Outdated component (foundation metadata concept)
A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta.	Outdated component (foundation metadata concept)
A person formally trained in the study of the relationship between physiology of the nervous system and human behavior (both observable physical actions and mental phenomena such as thoughts and emotions).	Duplicate component (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy and characterised by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms.	Concept non-current
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy and characterised by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease.	Concept non-current
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy characterised by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease.	Concept non-current
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms.	Concept non-current
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by strokes, vision loss, pseudotumors, seizures, motor and sensory deficits, headaches and occasionally renal disease.	Concept non-current
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy characterized by strokes, vision loss, migraines, pseudotumors, dementia and occasionally renal disease.	Concept non-current
A photocoagulation using a laser beam	Concept non-current
A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding.	Outdated component (foundation metadata concept)
A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	Outdated component (foundation metadata concept)
A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease.	Outdated component (foundation metadata concept)
A pressure ulcer that cannot be assessed for extent of tissue damage because it is obscured by slough or eschar.	Concept non-current
A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature.	Outdated component (foundation metadata concept)
A process characterized by an initial immune response to a foreign or self antigen resulting in the production of specific immunologic memory cells, antibodies and immune effector cells.	Concept non-current
A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient’s social environment.	Erroneous component (foundation metadata concept)
A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.	Erroneous component (foundation metadata concept)
A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern.	Outdated component (foundation metadata concept)
A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	Outdated component (foundation metadata concept)
A pure motor axonal form of Guillain-Barré syndrome that presents with rapid onset of muscle weakness and absent reflexes. The clinical course tends to be more severe than in the more frequent, demyelinating form of Guillain-Barré syndrome. In the majority of cases, this disease occurs following Campylobacter jejuni infection, in particular following infection with strains of C jejuni that cause enteritis.	Outdated component (foundation metadata concept)
A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema	Nonconformance to editorial policy component (foundation metadata concept)
A rare B-cell non-Hodgkin lymphoma characterised by the presence of small B-lymphocytes, plasmacytoid lymphocytes and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow and sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anaemia. Hyperviscosity, autoimmune phenomena and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinaemia.	Outdated component (foundation metadata concept)
A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow and sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.	Outdated component (foundation metadata concept)
A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance.	Outdated component (foundation metadata concept)
A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.	Outdated component (foundation metadata concept)
A rare X-linked intellectual disability syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.	Outdated component (foundation metadata concept)
A rare X-linked mental retardation syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.	Outdated component (foundation metadata concept)
A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	Outdated component (foundation metadata concept)
A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	Outdated component (foundation metadata concept)
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers has characteristics of a highly variable phenotype including facial dysmorphism (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.	Outdated component (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please) and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies and abnormalities of the fingers and toes among others. Caused by mutation in the MED12 gene on chromosome Xq13.	Outdated component (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please) and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies and abnormalities of the fingers and toes among others. Caused by mutation in the MED12 gene on chromosome Xq13.	Outdated component (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	Outdated component (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterised by multiple, asymptomatic firm well-demarcated nonfollicular hypopigmented or skin-coloured papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs) and with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibres, thickened and/or homogenised collagen bundles and in some a mild perivascular lymphocytic infiltrate in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterized by multiple, asymptomatic firm well-demarcated nonfollicular hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs) and with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and in some a mild perivascular lymphocytic infiltrate in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with decreased elastic tissue characterised by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganised, hyalinised, coarse collagen bundles and variable loss of elastic fibres in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles and variable loss of elastic fibers in the dermis.	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)