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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
Keipert syndrome (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
KLHL9-related early-onset distal myopathy en Attribution Inserm Orphanet
Keppen Lubinsky syndrome (disorder) en Attribution Inserm Orphanet
KRT1-related diffuse nonepidermolytic keratoderma en Attribution Inserm Orphanet
Keratin 14 related epidermolysis bullosa simplex (disorder) en Attribution Inserm Orphanet
Keratitis fugax hereditaria en Attribution Inserm Orphanet
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) en Attribution Inserm Orphanet
Keratosis follicularis, dwarfism, cerebral atrophy syndrome en Attribution Inserm Orphanet
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma 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
Keutel syndrome (disorder) en Attribution Inserm Orphanet
King Denborough syndrome en Attribution Inserm Orphanet
Kleefstra syndrome (disorder) en Attribution Inserm Orphanet
Klippel Trenaunay syndrome (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
Kostmann syndrome (disorder) en Attribution Inserm Orphanet
Kufor Rakeb 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
Laing early-onset distal myopathy 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
Laron syndrome with immunodeficiency (disorder) en Attribution Inserm Orphanet
Larsen-like osseous dysplasia, short stature syndrome (disorder) en Attribution Inserm Orphanet
Larsen-like syndrome B3GAT3 type en Attribution Inserm Orphanet
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Laryngo-onycho-cutaneous syndrome (disorder) en Attribution Inserm Orphanet
Late-onset citrullinemia type I en Attribution Inserm Orphanet
Late-onset distal myopathy Markesbery Griggs type (disorder) en Attribution Inserm Orphanet
Late-onset junctional epidermolysis bullosa (disorder) en Attribution Inserm Orphanet
Lathosterolosis (disorder) en Attribution Inserm Orphanet
Laubry Pezzi syndrome (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 cervix uteri en Attribution Inserm Orphanet
Leiomyosarcoma of corpus uteri 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 infantile mitochondrial myopathy (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
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) en Attribution Inserm Orphanet
Leucoencephalopathy with calcifications and cysts en Attribution Inserm Orphanet
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) en Attribution Inserm Orphanet
CLCN2-related leukoencephalopathy en Attribution Inserm Orphanet
Leukoencephalopathy, dystonia, motor neuropathy syndrome en Attribution Inserm Orphanet
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) en Attribution Inserm Orphanet
Leukonychia totalis (disorder) en Attribution Inserm Orphanet
Lichen amyloidosis (disorder) en Attribution Inserm Orphanet
Lichen planus pigmentosus (disorder) en Attribution Inserm Orphanet
Lichtenstein syndrome en Attribution Inserm Orphanet
Ligase 4 syndrome (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
Limb mammary syndrome (disorder) 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
Lipodystrophy due to peptidic growth factors deficiency (disorder) en Attribution Inserm Orphanet
Lipodystrophy, intellectual disability, deafness syndrome (disorder) en Attribution Inserm Orphanet
Cerebellar liponeurocytoma 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 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 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

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Reference Sets

Reference set descriptor

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