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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)

4145 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
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome en Attribution Inserm Orphanet
Metaphyseal dysplasia Braun Tinschert type (disorder) en Attribution Inserm Orphanet
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome en Attribution Inserm Orphanet
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) en Attribution Inserm Orphanet
Metopic ridging, ptosis, facial dysmorphism syndrome en Attribution Inserm Orphanet
Mevalonic aciduria (disorder) en Attribution Inserm Orphanet
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) en Attribution Inserm Orphanet
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) en Attribution Inserm Orphanet
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) en Attribution Inserm Orphanet
Microcephalic osteodysplastic primordial dwarfism type II en Attribution Inserm Orphanet
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) en Attribution Inserm Orphanet
Microcephalic primordial dwarfism Alazami type (disorder) en Attribution Inserm Orphanet
Microcephalic primordial dwarfism Dauber type en Attribution Inserm Orphanet
Microcephalic primordial dwarfism Montreal type en Attribution Inserm Orphanet
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) 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
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome en Attribution Inserm Orphanet
Microcephalus, complex motor and sensory axonal neuropathy syndrome en Attribution Inserm Orphanet
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) en Attribution Inserm Orphanet
Microcephalus, lymphedema, chorioretinopathy syndrome 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, hypogammaglobulinemia, abnormal immunity 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
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) en Attribution Inserm Orphanet
Microcephaly, thin corpus callosum, intellectual disability 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
Microduplication Xp11.22p11.23 syndrome (disorder) en Attribution Inserm Orphanet
Microform holoprosencephaly en Attribution Inserm Orphanet
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome en Attribution Inserm Orphanet
Microlissencephaly micromelia syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with brain and digit anomaly (disorder) en Attribution Inserm Orphanet
Microphthalmia with brain atrophy syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with linear skin defect 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
Microspherophakia with metaphyseal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome en Attribution Inserm Orphanet
Micturition induced epilepsy (disorder) en Attribution Inserm Orphanet
Midline cleft of lower lip 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 complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) 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 with sideroblastic anemia syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome en Attribution Inserm Orphanet
Mitochondrial myopathy, lactic acidosis, deafness 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
Moebius syndrome (disorder) en Attribution Inserm Orphanet
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Monoclonal mast cell activation syndrome (disorder) en Attribution Inserm Orphanet
Monosomy 13q14 syndrome en Attribution Inserm Orphanet
Monosomy 13q34 syndrome (disorder) en Attribution Inserm Orphanet
Monosomy 9p en Attribution Inserm Orphanet
Monosomy 9q22.3 syndrome (disorder) en Attribution Inserm Orphanet
Morvan 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 10 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 12 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 14 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 15 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 16 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 17 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 2 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 20 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 22 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 3 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 4 syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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