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

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

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

Descriptions:

Expanded Value Set

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

Members	valueId
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterised by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioural problems (e.g. hyperactivity, chaotic/repetitive behaviour, touch avoidance) are also associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X. The disease has principle characteristics of classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay and moderate to severe mental handicap. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented naevi and seizures.	A component that is no longer current, useful, appropriate or acceptable.
A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi and seizures.	A component that is no longer current, useful, appropriate or acceptable.
A rare chronic form of cutaneous amyloidosis, a skin disease with characteristics of the accumulation of amyloid deposits in the dermis. Clinical manifestations include the development of pruritic, often pigmented hyperkeratotic papules on trunk and extremities, especially on the shins. Histological findings include the deposition of amyloid or amyloid-like proteins in the papillary dermis.	A component that is no longer current, useful, appropriate or acceptable.
A rare chronic immune-mediated demyelinating polyneuropathy. The exact prevalence is unknown but less than 30 cases have been reported in the literature. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. Motor weakness affecting the oculomotor and bulbar muscles is present as either a fixed or relapsing-remitting feature.	A component that is no longer current, useful, appropriate or acceptable.
A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	A component that is no longer current, useful, appropriate or acceptable.
A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	A component that is no longer current, useful, appropriate or acceptable.
A rare ciliopathy with major skeletal involvement with characteristics of short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathy disease such as laterality defects and cystic kidneys have also been observed.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinical situation occurring in the context of Parkinson disease with characteristics of return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off) and Dose Failure.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinical situation with characteristics which include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinical situation with characteristics which include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnoea, chest pain, fever, anaemia and haemoptysis.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens and fluctuating neutropenia.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T and B cell immunodeficiency characterised by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinaemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	Concept non-current
A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens and fluctuating neutropenia.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	Concept non-current
A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterised by persistent symptomatic Epstein-Barr viraemia and hypogammaglobulinaemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, haemophagocytic lymphohistiocytosis, and aplastic anaemia.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic Epstein-Barr viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	A component that is no longer current, useful, appropriate or acceptable.
A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	A component that is no longer current, useful, appropriate or acceptable.
A rare common cystic lymphatic malformation characterised by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma or intracystic haemorrhage can lead to lesional expansion. Malignant transformation does not occur.	A component that is no longer current, useful, appropriate or acceptable.
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.	A component that is no longer current, useful, appropriate or acceptable.
A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31.	A component that is no longer current, useful, appropriate or acceptable.
A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ‘bone-corpuscle’ pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31.	Erroneous component (foundation metadata concept)
A rare complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex form of hereditary spastic paraplegia with the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. Caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia characterised by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastro-oesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	Erroneous component (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	Erroneous component (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	A component that is no longer current, useful, appropriate or acceptable.
A rare complex type of hereditary spastic paraplegia with onset, in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. Caused by mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	A component that is no longer current, useful, appropriate or acceptable.
A rare condition characterised by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynaecologic tumours, especially cervical cancer, followed by haematologic malignancies.	A component that is no longer current, useful, appropriate or acceptable.
A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies.	A component that is no longer current, useful, appropriate or acceptable.
A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.	A component that is no longer current, useful, appropriate or acceptable.
A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital anomaly of the great veins characterised by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosaemia without uridine diphosphate enzyme deficiency, hyperammonaemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxaemia from hepatopulmonary syndrome and benign or malignant tumours.	Concept non-current
A rare congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.	Concept non-current
A rare congenital anomaly of the great veins with characteristics of an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital anomaly of the inferior vena cava with characteristics of the postnatal presence of a eustachian valve remnant that may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, and infective endocarditis and when combined with persistent foramen ovale it may generate permanent right-to-left shunt.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital anomaly of the inferior vena cava with complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices and haematochezia among others. Additional venous abnormalities or cardiac malformations are frequently present.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital anomaly of the inferior vena cava with complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices and hematochezia among others. Additional venous abnormalities or cardiac malformations are frequently present.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital anorectal malformation with characteristics of an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority of malformations are found in the retro-rectal space where they communicate with or are contiguous to the rectum.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital arterial duct anomaly with characteristics of saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures can develop. Spontaneous resolution has been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital atrioventricular valve malformation characterised by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnoea, cyanosis, depending also on accompanying congenital heart anomaly.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by axonal neuropathy, manifesting at birth or shortly thereafter with generalised muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital cerebellar malformation disorder with characteristics of complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia and delayed gait acquisition, along with delayed speech and language development.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder characterised by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterised by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. The etiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation caused by mutations in the CAD gene with characteristics of epileptic encephalopathy, global developmental delay, normocytic anaemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation caused by mutations in the CAD gene with characteristics of epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupraemia and hypoceruloplasminaemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene with characteristics of neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses and marked serum immunoglobulin E elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation characterised by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolaemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation characterised by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolaemia and low serum ceruloplasmin.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation characterized by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia and low serum ceruloplasmin.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.	A component that is no longer current, useful, appropriate or acceptable.
A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.	A component that is no longer current, useful, appropriate or acceptable.

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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)