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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
Paternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet
Pediatric arterial ischemic stroke en Attribution Inserm Orphanet
Pediatric collagenous gastritis en Attribution Inserm Orphanet
Pediatric hepatocellular carcinoma en Attribution Inserm Orphanet
Paediatric multiple sclerosis en Attribution Inserm Orphanet
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) en Attribution Inserm Orphanet
Pelizaeus Merzbacher like disease (disorder) en Attribution Inserm Orphanet
Pelvis shoulder dysplasia (disorder) en Attribution Inserm Orphanet
Pelviscapular dysplasia en Attribution Inserm Orphanet
Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder) en Attribution Inserm Orphanet
Periodic fever, infantile enterocolitis, autoinflammatory syndrome en Attribution Inserm Orphanet
PMP2-related Charcot-Marie-Tooth disease type 1 en Attribution Inserm Orphanet
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) en Attribution Inserm Orphanet
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) en Attribution Inserm Orphanet
Persistent left superior vena cava connecting through coronary sinus to left sided atrium en Attribution Inserm Orphanet
Persistent placoid maculopathy (disorder) en Attribution Inserm Orphanet
Phocomelia Schinzel type (disorder) en Attribution Inserm Orphanet
PDE4D haploinsufficiency syndrome en Attribution Inserm Orphanet
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) en Attribution Inserm Orphanet
Phyllodes tumor of prostate (disorder) en Attribution Inserm Orphanet
Piebaldism (disorder) en Attribution Inserm Orphanet
Pierpont syndrome (disorder) en Attribution Inserm Orphanet
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Attribution Inserm Orphanet
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) en Attribution Inserm Orphanet
Pili bifurcati (disorder) en Attribution Inserm Orphanet
Pili torti with developmental delay and neurological abnormality syndrome (disorder) en Attribution Inserm Orphanet
Pineocytoma en Attribution Inserm Orphanet
Pituitary deficiency due to empty sella turcica syndrome (disorder) en Attribution Inserm Orphanet
Pituitary stalk interruption syndrome (disorder) en Attribution Inserm Orphanet
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome en Attribution Inserm Orphanet
Pneumonia caused by Pseudomonas aeruginosa (disorder) en Attribution Inserm Orphanet
Polyclonal hyperviscosity syndrome en Attribution Inserm Orphanet
Polydactyly of triphalangeal thumb (disorder) en Attribution Inserm Orphanet
Polyendocrine polyneuropathy syndrome (disorder) en Attribution Inserm Orphanet
Polyglucosan body myopathy type 2 en Attribution Inserm Orphanet
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) en Attribution Inserm Orphanet
Polymicrogyria due to TUBB2B mutation en Attribution Inserm Orphanet
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) en Attribution Inserm Orphanet
Porokeratosis plantaris palmaris et disseminata (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly type A (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly type B (disorder) en Attribution Inserm Orphanet
Posterior amorphous corneal dystrophy (disorder) en Attribution Inserm Orphanet
Posterior cortical atrophy syndrome (disorder) en Attribution Inserm Orphanet
Posterior meningocele en Attribution Inserm Orphanet
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome en Attribution Inserm Orphanet
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome en Attribution Inserm Orphanet
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency en Attribution Inserm Orphanet
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) en Attribution Inserm Orphanet
Predisposition to invasive fungal disease due to CARD9 deficiency en Attribution Inserm Orphanet
Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (disorder) en Attribution Inserm Orphanet
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) en Attribution Inserm Orphanet
Prepubertal anorexia nervosa en Attribution Inserm Orphanet
Primary biliary cholangitis and/or primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome en Attribution Inserm Orphanet
Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) en Attribution Inserm Orphanet
Primary pituitary carcinoma en Attribution Inserm Orphanet
Primary carcinosarcoma of corpus uteri (disorder) en Attribution Inserm Orphanet
Primary choriocarcinoma of central nervous system en Attribution Inserm Orphanet
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) en Attribution Inserm Orphanet
Primary cutaneous plasmacytosis en Attribution Inserm Orphanet
Primary desmosis coli (disorder) en Attribution Inserm Orphanet
Primary dystonia 21 (disorder) en Attribution Inserm Orphanet
Primary dystonia type 13 (disorder) en Attribution Inserm Orphanet
Primary dystonia type 2 (disorder) en Attribution Inserm Orphanet
Primary dystonia DYT27 type en Attribution Inserm Orphanet
Primary dystonia type 4 (disorder) en Attribution Inserm Orphanet
Primary failure of tooth eruption (disorder) en Attribution Inserm Orphanet
Primary hepatic neuroendocrine carcinoma (disorder) en Attribution Inserm Orphanet
Primary hypereosinophilic syndrome en Attribution Inserm Orphanet
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) en Attribution Inserm Orphanet
Primary hyperplasia of mandibular condyle (disorder) en Attribution Inserm Orphanet
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome en Attribution Inserm Orphanet
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome en Attribution Inserm Orphanet
Primary immunodeficiency syndrome due to p14 deficiency (disorder) en Attribution Inserm Orphanet
Primary immunodeficiency with multifaceted aberrant lymphoid immunity en Attribution Inserm Orphanet
Primary intrahepatic lithiasis (disorder) en Attribution Inserm Orphanet
Primary localized cutaneous nodular amyloidosis (disorder) en Attribution Inserm Orphanet
Primary lymphedema en Attribution Inserm Orphanet
Primary malignant Sertoli-Leydig cell tumor of ovary (disorder) en Attribution Inserm Orphanet
Primary non-gestational choriocarcinoma of ovary (disorder) en Attribution Inserm Orphanet
Primary oculocerebral non-Hodgkin lymphoma en Attribution Inserm Orphanet
Primary orthostatic tremor (disorder) en Attribution Inserm Orphanet
Primary progressive non fluent aphasia (disorder) en Attribution Inserm Orphanet
Primary pulmonary lymphoma (disorder) en Attribution Inserm Orphanet
Primary squamous cell carcinoma of nasal cavity and paranasal sinus (disorder) en Attribution Inserm Orphanet
Primary triglyceride deposit cardiomyovasculopathy (disorder) en Attribution Inserm Orphanet
Primary unilateral adrenal hyperplasia (disorder) en Attribution Inserm Orphanet
Proboscis lateralis (disorder) en Attribution Inserm Orphanet
Progeroid features, hepatocellular carcinoma predisposition syndrome en Attribution Inserm Orphanet
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) en Attribution Inserm Orphanet
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Progressive bifocal chorioretinal atrophy (disorder) en Attribution Inserm Orphanet
Progressive cavitating leukoencephalopathy (disorder) en Attribution Inserm Orphanet
Progressive cerebello-cerebral atrophy (disorder) en Attribution Inserm Orphanet
Progressive deafness with stapes fixation (disorder) en Attribution Inserm Orphanet
Progressive encephalopathy with severe infantile anorexia (disorder) en Attribution Inserm Orphanet
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome en Attribution Inserm Orphanet
Progressive hemifacial atrophy (disorder) en Attribution Inserm Orphanet
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome en Attribution Inserm Orphanet
Progressive myoclonic epilepsy type 7 en Attribution Inserm Orphanet
Progressive myoclonic epilepsy type 9 en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

GB English

US English

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