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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
Isolated encephalocele en Attribution Inserm Orphanet
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) en Attribution Inserm Orphanet
Isolated generalized anhidrosis with normal sweat glands en Attribution Inserm Orphanet
Isolated hypoplasia of fovea centralis (disorder) en Attribution Inserm Orphanet
Isolated lipoma of filum terminale (disorder) en Attribution Inserm Orphanet
Isolated microspherophakia (disorder) en Attribution Inserm Orphanet
Isolated neonatal sclerosing cholangitis (disorder) en Attribution Inserm Orphanet
Isolated osteopoikilosis (disorder) en Attribution Inserm Orphanet
Isolated polycystic liver disease (disorder) en Attribution Inserm Orphanet
Isolated primary pigmented nodular adrenocortical disease (disorder) en Attribution Inserm Orphanet
Isolated right ventricular hypoplasia (disorder) en Attribution Inserm Orphanet
Isolated transitional lipoma of filum terminale (disorder) en Attribution Inserm Orphanet
Jansen-de Vries syndrome (disorder) en Attribution Inserm Orphanet
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) en Attribution Inserm Orphanet
Joubert syndrome (disorder) en Attribution Inserm Orphanet
Joubert syndrome with ocular defect (disorder) en Attribution Inserm Orphanet
Joubert syndrome with renal defect (disorder) en Attribution Inserm Orphanet
Juvenile amyotrophic lateral sclerosis (disorder) en Attribution Inserm Orphanet
Juvenile angiofibroma of nasopharynx (disorder) en Attribution Inserm Orphanet
Juvenile primary lateral sclerosis (disorder) en Attribution Inserm Orphanet
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) en Attribution Inserm Orphanet
Kaposiform lymphangiomatosis (disorder) en Attribution Inserm Orphanet
KLHL7-related Bohring Opitz-like syndrome en Attribution Inserm Orphanet
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome en Attribution Inserm Orphanet
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) en Attribution Inserm Orphanet
Keppen Lubinsky syndrome (disorder) en Attribution Inserm Orphanet
KRT1-related diffuse nonepidermolytic keratoderma en Attribution Inserm Orphanet
Keratitis fugax hereditaria en Attribution Inserm Orphanet
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) en Attribution Inserm Orphanet
Naxos disease en Attribution Inserm Orphanet
Chronic bilirubin encephalopathy en Attribution Inserm Orphanet
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) en Attribution Inserm Orphanet
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome en Attribution Inserm Orphanet
Koolen De Vries syndrome (disorder) en Attribution Inserm Orphanet
Kosaki overgrowth syndrome (disorder) en Attribution Inserm Orphanet
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome en Attribution Inserm Orphanet
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome en Attribution Inserm Orphanet
L-ferritin deficiency (disorder) en Attribution Inserm Orphanet
Lamb Shaffer syndrome en Attribution Inserm Orphanet
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) en Attribution Inserm Orphanet
LAMA5-related multisystemic syndrome en Attribution Inserm Orphanet
Large congenital pigmented melanocytic nevus of skin (disorder) en Attribution Inserm Orphanet
Late-onset citrullinemia type I en Attribution Inserm Orphanet
Late-onset junctional epidermolysis bullosa (disorder) en Attribution Inserm Orphanet
Lathosterolosis (disorder) en Attribution Inserm Orphanet
Leber plus disease (disorder) en Attribution Inserm Orphanet
Left renal vein entrapment syndrome (disorder) en Attribution Inserm Orphanet
Leiomyoma of orbit (disorder) en Attribution Inserm Orphanet
Leiomyosarcoma of small intestine (disorder) en Attribution Inserm Orphanet
Lemierre syndrome en Attribution Inserm Orphanet
Lethal Larsen-like syndrome (disorder) en Attribution Inserm Orphanet
Lethal acantholytic erosive disorder en Attribution Inserm Orphanet
Lethal brain and heart developmental defects syndrome (disorder) en Attribution Inserm Orphanet
Lethal congenital contracture syndrome type 1 (disorder) en Attribution Inserm Orphanet
Lethal congenital contracture syndrome type 2 (disorder) en Attribution Inserm Orphanet
Lethal faciocardiomelic dysplasia (disorder) en Attribution Inserm Orphanet
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome en Attribution Inserm Orphanet
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Attribution Inserm Orphanet
Lethal hemolytic anemia and genital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) en Attribution Inserm Orphanet
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome en Attribution Inserm Orphanet
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) en Attribution Inserm Orphanet
Lethal omphalocele with cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Lethal recessive chondrodysplasia (disorder) en Attribution Inserm Orphanet
Leukocyte adhesion deficiency type III en Attribution Inserm Orphanet
Leukocyte chemotactic factor-2 amyloidosis (disorder) en Attribution Inserm Orphanet
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) en Attribution Inserm Orphanet
Leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts (disorder) en Attribution Inserm Orphanet
Leucoencephalopathy with calcifications and cysts en Attribution Inserm Orphanet
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) en Attribution Inserm Orphanet
Lichen amyloidosis (disorder) en Attribution Inserm Orphanet
Lichen planus pigmentosus (disorder) en Attribution Inserm Orphanet
Limb body wall complex (disorder) en Attribution Inserm Orphanet
Limb girdle muscular dystrophy due to POMK deficiency en Attribution Inserm Orphanet
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies (disorder) 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
Cerebellar liponeurocytoma en Attribution Inserm Orphanet
Lipoyl transferase 2 deficiency (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 F 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
Livedo reticularis and cerebrovascular accident 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
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) en Attribution Inserm Orphanet
Low phospholipid associated cholelithiasis (disorder) en Attribution Inserm Orphanet
Luscan Lumish syndrome 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
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 with spastic paraplegia and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet

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