1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\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)

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
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
Postorgasmic illness syndrome	en	Attribution	Inserm Orphanet
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency	en	Attribution	Inserm Orphanet
Potassium voltage-gated channel subfamily Q member 2 developmental and epileptic encephalopathy (disorder)	en	Attribution	Inserm Orphanet
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Prader-Willi-like syndrome	en	Attribution	Inserm Orphanet
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	en	Attribution	Inserm Orphanet
Preaxial digit brachydactyly, webbed fingers (disorder)	en	Attribution	Inserm Orphanet
Preaxial polydactyly, colobomata, intellectual disability 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 CD59 deficiency	en	Attribution	Inserm Orphanet
Primary ameloblastic carcinoma	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 bone lymphoma	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 congenital aneurysm of inferior vena cava	en	Attribution	Inserm Orphanet
Primary congenital aneurysm of superior vena cava (disorder)	en	Attribution	Inserm Orphanet
Primary cutaneous CD8 positive aggressive epidermotropic cytotoxic T-cell lymphoma (disorder)	en	Attribution	Inserm Orphanet
Primary cutaneous gamma-delta-positive T-cell lymphoma (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 DYT17 type (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 essential cutis verticis gyrata (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 hyperaldosteronism, seizures, neurological abnormalities syndrome (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 immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	en	Attribution	Inserm Orphanet
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder)	en	Attribution	Inserm Orphanet
Primary intrahepatic lithiasis (disorder)	en	Attribution	Inserm Orphanet
Primary intraosseous venous malformation (disorder)	en	Attribution	Inserm Orphanet
Primary localized cutaneous nodular amyloidosis (disorder)	en	Attribution	Inserm Orphanet
Primary lymphedema	en	Attribution	Inserm Orphanet
Primary lymphoma of conjunctiva (disorder)	en	Attribution	Inserm Orphanet
Primary malignant Sertoli-Leydig cell tumor of ovary (disorder)	en	Attribution	Inserm Orphanet
Primary malignant neuroendocrine neoplasm of ileum (disorder)	en	Attribution	Inserm Orphanet
Primary malignant neuroendocrine neoplasm of jejunum	en	Attribution	Inserm Orphanet
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	en	Attribution	Inserm Orphanet
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	en	Attribution	Inserm Orphanet
Primary non-essential cutis verticis gyrata (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 tethered cord syndrome	en	Attribution	Inserm Orphanet
Primary triglyceride deposit cardiomyovasculopathy (disorder)	en	Attribution	Inserm Orphanet
Primary unilateral adrenal hyperplasia (disorder)	en	Attribution	Inserm Orphanet
Prion protein systemic amyloidosis (disorder)	en	Attribution	Inserm Orphanet
Proboscis lateralis (disorder)	en	Attribution	Inserm Orphanet
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	en	Attribution	Inserm Orphanet
Progeroid features, hepatocellular carcinoma predisposition syndrome	en	Attribution	Inserm Orphanet
Progeroid syndrome Petty type	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 cone-rod dystrophy	en	Attribution	Inserm Orphanet
Progressive deafness with stapes fixation (disorder)	en	Attribution	Inserm Orphanet
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	en	Attribution	Inserm Orphanet
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	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 external ophthalmoplegia, myopathy, emaciation syndrome	en	Attribution	Inserm Orphanet
Progressive hemifacial atrophy (disorder)	en	Attribution	Inserm Orphanet
Progressive intrahepatic cholestasis	en	Attribution	Inserm Orphanet
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 3	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 5 (disorder)	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 6 (disorder)	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 7	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 8 (disorder)	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy type 9	en	Attribution	Inserm Orphanet
Progressive myoclonic epilepsy with dystonia	en	Attribution	Inserm Orphanet
Progressive nodular histiocytosis	en	Attribution	Inserm Orphanet
Progressive non-infectious anterior vertebral fusion (disorder)	en	Attribution	Inserm Orphanet
Progressive osseous heteroplasia (disorder)	en	Attribution	Inserm Orphanet
Progressive polyneuropathy with bilateral striatal necrosis	en	Attribution	Inserm Orphanet
Progressive retinal dystrophy due to retinol transport defect (disorder)	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

Back to Start

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)