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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)

5247 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
Limb mammary syndrome (disorder) en Attribution Inserm Orphanet
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies (disorder) en Attribution Inserm Orphanet
Linear focal elastosis en Attribution Inserm Orphanet
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies en Attribution Inserm Orphanet
Linear verrucous nevus syndrome (disorder) en Attribution Inserm Orphanet
LIPE-related familial partial lipodystrophy en Attribution Inserm Orphanet
Lipoatrophy caused by injected drug en Attribution Inserm Orphanet
Lipodystrophy due to peptidic growth factors deficiency (disorder) en Attribution Inserm Orphanet
Lipodystrophy, intellectual disability, deafness syndrome (disorder) en Attribution Inserm Orphanet
Lipoic acid synthetase deficiency (disorder) en Attribution Inserm Orphanet
Cerebellar liponeurocytoma en Attribution Inserm Orphanet
Lipoyl transferase 1 deficiency (disorder) en Attribution Inserm Orphanet
Lipoyl transferase 2 deficiency (disorder) en Attribution Inserm Orphanet
Lisch epithelial corneal dystrophy (disorder) en Attribution Inserm Orphanet
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) en Attribution Inserm Orphanet
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder) en Attribution Inserm Orphanet
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder) en Attribution Inserm Orphanet
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) en Attribution Inserm Orphanet
Lissencephaly with cerebellar hypoplasia type E en Attribution Inserm Orphanet
Lissencephaly with cerebellar hypoplasia type F en Attribution Inserm Orphanet
Lissencephaly due to LIS1 mutation en Attribution Inserm Orphanet
Lissencephaly due to tubulin alpha 1A mutation (disorder) en Attribution Inserm Orphanet
Lissencephaly syndrome Norman Roberts type (disorder) en Attribution Inserm Orphanet
Lissencephaly type 1 due to doublecortin gene mutation (disorder) en Attribution Inserm Orphanet
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) en Attribution Inserm Orphanet
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Liver adenomatosis en Attribution Inserm Orphanet
Logopenic progressive aphasia (disorder) en Attribution Inserm Orphanet
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Long thumb brachydactyly syndrome en Attribution Inserm Orphanet
Los Angeles Classification of Esophagitis Grade A (disorder) en Attribution IWGCO - International Working Group for the Classification of Oesophagitis
Los Angeles Classification of Esophagitis Grade B (disorder) en Attribution IWGCO - International Working Group for the Classification of Oesophagitis
Los Angeles Classification of Esophagitis Grade C en Attribution IWGCO - International Working Group for the Classification of Oesophagitis
Los Angeles Classification of Esophagitis Grade D en Attribution IWGCO - International Working Group for the Classification of Oesophagitis
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) en Attribution Inserm Orphanet
Low phospholipid associated cholelithiasis (disorder) en Attribution Inserm Orphanet
Lower limb malformation hypospadias syndrome en Attribution Inserm Orphanet
Lower motor neuron syndrome with late-adult onset (disorder) en Attribution Inserm Orphanet
Lowry MacLean syndrome (disorder) en Attribution Inserm Orphanet
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) en Attribution Inserm Orphanet
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Luscan Lumish syndrome en Attribution Inserm Orphanet
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema hypoparathyroidism syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema, atrial septal defect, facial changes syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema, posterior choanal atresia syndrome (disorder) en Attribution Inserm Orphanet
Lymphoplasmacytic lymphoma without immunoglobulin M production (disorder) en Attribution Inserm Orphanet
Lymphoproliferative disorder caused by methotrexate en Attribution Inserm Orphanet
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) en Attribution Inserm Orphanet
MAGE family member L2-related Prader-Willi-like syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly and developmental delay syndrome en Attribution Inserm Orphanet
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, intellectual disability, autism 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
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, short stature, paraplegia syndrome (disorder) en Attribution Inserm Orphanet
Macrophagic myofasciitis (disorder) en Attribution Inserm Orphanet
Macrosomia, microphthalmia, cleft palate syndrome en Attribution Inserm Orphanet
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) en Attribution Inserm Orphanet
Macrothrombocytopenia with mitral valve insufficiency en Attribution Inserm Orphanet
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Attribution Inserm Orphanet
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) en Attribution Inserm Orphanet
Maculopapular cutaneous mastocytosis (disorder) en Attribution Inserm Orphanet
Malakoplakia (disorder) en Attribution Inserm Orphanet
Malan overgrowth syndrome en Attribution Inserm Orphanet
Male emopamil-binding protein disorder with neurological defect en Attribution Inserm Orphanet
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Male infertility with teratozoospermia due to single gene mutation (disorder) en Attribution Inserm Orphanet
Malignancy diagnosed during pregnancy (disorder) en Attribution Inserm Orphanet
Malignant epithelial neoplasm of salivary gland en Attribution Inserm Orphanet
Malignant germ cell neoplasm of cervix uteri (disorder) en Attribution Inserm Orphanet
Malignant germ cell neoplasm of corpus uteri en Attribution Inserm Orphanet
Malignant germ cell neoplasm of vagina (disorder) en Attribution Inserm Orphanet
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) en Attribution Inserm Orphanet
Malignant immature teratoma of ovary (disorder) en Attribution Inserm Orphanet
Malignant melanoma of mucous membrane en Attribution Inserm Orphanet
Malignant non-dysgerminomatous germ cell tumor of ovary en Attribution Inserm Orphanet
Malonic aciduria en Attribution Inserm Orphanet
Mammary digital nail syndrome (disorder) en Attribution Inserm Orphanet
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) en Attribution Inserm Orphanet
Mandibuloacral dysplasia associated to MTX2 en Attribution Inserm Orphanet
Mandibulofacial dysostosis with alopecia en Attribution Inserm Orphanet
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome en Attribution Inserm Orphanet
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Marburg acute multiple sclerosis en Attribution Inserm Orphanet
Marfanoid habitus with autosomal recessive intellectual disability syndrome en Attribution Inserm Orphanet
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome en Attribution Inserm Orphanet
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) en Attribution Inserm Orphanet
Marfanoid syndrome De Silva type (disorder) en Attribution Inserm Orphanet
Martinique crinkled retinal pigment epitheliopathy en Attribution Inserm Orphanet
Maternal riboflavin deficiency en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 1 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 13 en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 16 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 2 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 21 en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 22 (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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