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

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

Descriptions:

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

2698 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Component annotation with string value reference set (foundation metadata concept) Is a Reference set true Inferred relationship Some
Members languageDialectCode typeId value
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome en Attribution Inserm Orphanet
Macrophagic myofasciitis (disorder) en Attribution Inserm Orphanet
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Attribution Inserm Orphanet
Maculopapular cutaneous mastocytosis (disorder) en Attribution Inserm Orphanet
Malakoplakia (disorder) en Attribution Inserm Orphanet
Malignancy diagnosed during pregnancy (disorder) en Attribution Inserm Orphanet
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) en Attribution Inserm Orphanet
Malignant non-dysgerminomatous germ cell tumor of ovary en Attribution Inserm Orphanet
Mammary digital nail syndrome (disorder) en Attribution Inserm Orphanet
Mandibulofacial dysostosis with alopecia en Attribution Inserm Orphanet
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome en Attribution Inserm Orphanet
Martinique crinkled retinal pigment epitheliopathy en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet
Maternally inherited Leigh syndrome (disorder) en Attribution Inserm Orphanet
Maternally inherited mitochondrial dystonia (disorder) en Attribution Inserm Orphanet
Maxillonasal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Mayer Rokitansky Küster Hauser syndrome (disorder) en Attribution Inserm Orphanet
McDonough syndrome (disorder) en Attribution Inserm Orphanet
Medich giant platelet syndrome (disorder) en Attribution Inserm Orphanet
Megaconial congenital muscular dystrophy en Attribution Inserm Orphanet
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome en Attribution Inserm Orphanet
Melanoma and neural system tumour syndrome en Attribution Inserm Orphanet
Melorheostosis with osteopoikilosis en Attribution Inserm Orphanet
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) en Attribution Inserm Orphanet
Meningioma of uncertain behavior (disorder) en Attribution Inserm Orphanet
Menke Hennekam syndrome en Attribution Inserm Orphanet
Menstrual cycle dependent periodic fever (disorder) en Attribution Inserm Orphanet
Mesenchymal hamartoma of liver (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia Kantaputra type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia Savarirayan type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) en Attribution Inserm Orphanet
Metaphyseal dysplasia Braun Tinschert type (disorder) en Attribution Inserm Orphanet
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome en Attribution Inserm Orphanet
Metopic ridging, ptosis, facial dysmorphism syndrome en Attribution Inserm Orphanet
Mevalonic aciduria (disorder) en Attribution Inserm Orphanet
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) en Attribution Inserm Orphanet
Microcephalic osteodysplastic primordial dwarfism type II en Attribution Inserm Orphanet
Microcephalic primordial dwarfism of Toriello type (disorder) en Attribution Inserm Orphanet
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus cardiomyopathy syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) en Attribution Inserm Orphanet
Hadziselimovic syndrome en Attribution Inserm Orphanet
Microcephalus microcornea syndrome of Seemanova type (disorder) en Attribution Inserm Orphanet
Microcephalus with albinism and digital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly with deafness and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome en Attribution Inserm Orphanet
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) en Attribution Inserm Orphanet
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) en Attribution Inserm Orphanet
Microcystic stromal tumour of ovary en Attribution Inserm Orphanet
Microform holoprosencephaly en Attribution Inserm Orphanet
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome en Attribution Inserm Orphanet
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia, microtia, fetal akinesia syndrome en Attribution Inserm Orphanet
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) en Attribution Inserm Orphanet
Microscopic polyangiitis (disorder) en Attribution Inserm Orphanet
Mirror hands and feet co-occurrent with nasal defect (disorder) en Attribution Inserm Orphanet
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) en Attribution Inserm Orphanet
Mirror-image polydactyly en Attribution Inserm Orphanet
Mitchell syndrome en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) en Attribution Inserm Orphanet
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies en Attribution Inserm Orphanet
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) en Attribution Inserm Orphanet
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome en Attribution Inserm Orphanet
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial pyruvate carrier deficiency en Attribution Inserm Orphanet
Mixed cystic lymphatic malformation en Attribution Inserm Orphanet
Mixed neuroendocrine-non neuroendocrine neoplasm of pancreas (disorder) en Attribution Inserm Orphanet
Mixed phenotype acute leukemia (disorder) en Attribution Inserm Orphanet
Monoclonal mast cell activation syndrome (disorder) en Attribution Inserm Orphanet
Mosaic Legius syndrome (disorder) en Attribution Inserm Orphanet
Mosaic neurofibromatosis type 1 en Attribution Inserm Orphanet
Mosaic neurofibromatosis type 2 (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 1 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 8 syndrome (disorder) en Attribution Inserm Orphanet
Moyamoya disease with early onset achalasia (disorder) en Attribution Inserm Orphanet
Mucopolysaccharidosis-like plus disease en Attribution Inserm Orphanet
Mueller Weiss syndrome (disorder) en Attribution Inserm Orphanet
Mullerian duct and limb anomalies syndrome (disorder) en Attribution Inserm Orphanet
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) en Attribution Inserm Orphanet
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome en Attribution Inserm Orphanet
MARCH syndrome en Attribution Inserm Orphanet
Multiple endocrine neoplasia type 4 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 1 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 4 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 5 (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 1 en Attribution Inserm Orphanet

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Reference Sets

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