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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
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) en Attribution Inserm Orphanet
Pelizaeus Merzbacher like disease (disorder) en Attribution Inserm Orphanet
Pelvic dysplasia, arthrogryposis of lower limbs syndrome en Attribution Inserm Orphanet
Pelvis shoulder dysplasia (disorder) en Attribution Inserm Orphanet
Pelviscapular dysplasia en Attribution Inserm Orphanet
Pericardial and diaphragmatic defect syndrome (disorder) en Attribution Inserm Orphanet
Perilipin 1 related familial partial lipodystrophy (disorder) en Attribution Inserm Orphanet
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder) 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
Periodic paralysis with later-onset distal motor neuropathy (disorder) en Attribution Inserm Orphanet
Periodic paralysis with transient compartment-like syndrome (disorder) en Attribution Inserm Orphanet
Perioral myoclonia with absences (disorder) en Attribution Inserm Orphanet
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) 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
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) en Attribution Inserm Orphanet
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome en Attribution Inserm Orphanet
Periventricular nodular heterotopia en Attribution Inserm Orphanet
Perlman syndrome (disorder) en Attribution Inserm Orphanet
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) en Attribution Inserm Orphanet
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) en Attribution Inserm Orphanet
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Persistent eustachian valve (disorder) en Attribution Inserm Orphanet
Persistent idiopathic facial pain 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
Persistent polyclonal B-cell lymphocytosis en Attribution Inserm Orphanet
Phakomatosis pigmentokeratotica (disorder) en Attribution Inserm Orphanet
Phalangeal microgeodic syndrome (disorder) en Attribution Inserm Orphanet
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome (disorder) en Attribution Inserm Orphanet
Phenylketonuria en Attribution Inserm Orphanet
Phocomelia Schinzel type (disorder) en Attribution Inserm Orphanet
PDE4D haploinsufficiency syndrome en Attribution Inserm Orphanet
PGM1-related congenital disorder of glycosylation 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
PLCG2-associated antibody deficiency and immune dysregulation en Attribution Inserm Orphanet
Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder) en Attribution Inserm Orphanet
Phosphoribosylpyrophosphate synthetase superactivity (disorder) en Attribution Inserm Orphanet
Phyllodes tumor of prostate (disorder) en Attribution Inserm Orphanet
Piebald trait with neurologic defects syndrome en Attribution Inserm Orphanet
Piebaldism (disorder) en Attribution Inserm Orphanet
Pierpont syndrome (disorder) en Attribution Inserm Orphanet
Pierre Robin sequence faciodigital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) en Attribution Inserm Orphanet
Pierson 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
Pigmented paravenous retinochoroidal atrophy (disorder) en Attribution Inserm Orphanet
Pili bifurcati (disorder) en Attribution Inserm Orphanet
Pili torti onychodysplasia syndrome (disorder) en Attribution Inserm Orphanet
Pili torti with developmental delay and neurological abnormality syndrome (disorder) en Attribution Inserm Orphanet
Pilocytic astrocytoma en Attribution Inserm Orphanet
Pilodental dysplasia, refractive errors syndrome (disorder) en Attribution Inserm Orphanet
Pineocytoma en Attribution Inserm Orphanet
Pituitary deficiency due to Rathke cleft cysts en Attribution Inserm Orphanet
Pituitary deficiency due to empty sella turcica syndrome (disorder) en Attribution Inserm Orphanet
Pituitary dermoid and epidermoid cysts (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
Poikiloderma with neutropenia en Attribution Inserm Orphanet
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Poisoning caused by monochloroacetic acid (disorder) en Attribution Inserm Orphanet
Poland anomaly en Attribution Inserm Orphanet
Polyclonal hyperviscosity syndrome en Attribution Inserm Orphanet
Polydactyly myopia syndrome (disorder) en Attribution Inserm Orphanet
Polydactyly of index finger (disorder) en Attribution Inserm Orphanet
Polydactyly of triphalangeal thumb (disorder) en Attribution Inserm Orphanet
Polyendocrine polyneuropathy syndrome (disorder) en Attribution Inserm Orphanet
Polyglandular autoimmune syndrome, type 1 en Attribution Inserm Orphanet
Polyglucosan body myopathy type 1 (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
Polymicrogyria with optic nerve hypoplasia en Attribution Inserm Orphanet
Polyneuropathy associated with immunoglobulin M monoclonal gammopathy of uncertain significance (disorder) en Attribution Inserm Orphanet
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) en Attribution Inserm Orphanet
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) en Attribution Inserm Orphanet
Polysyndactyly and cardiac malformation syndrome (disorder) en Attribution Inserm Orphanet
Polyvalvular heart disease syndrome (disorder) en Attribution Inserm Orphanet
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) en Attribution Inserm Orphanet
Pontine tegmental cap dysplasia en Attribution Inserm Orphanet
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) en Attribution Inserm Orphanet
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) en Attribution Inserm Orphanet
Porokeratosis plantaris palmaris et disseminata (disorder) en Attribution Inserm Orphanet
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome en Attribution Inserm Orphanet
Porto sinusoidal vascular disease (disorder) en Attribution Inserm Orphanet
Post 5-alpha-reductase inhibitor treatment syndrome (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly type A (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly type B (disorder) en Attribution Inserm Orphanet
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome en Attribution Inserm Orphanet
Postaxial polydactyly, dental, vertebral anomalies syndrome en Attribution Inserm Orphanet
Postaxial tetramelic oligodactyly en Attribution Inserm Orphanet
Posterior amorphous corneal dystrophy (disorder) en Attribution Inserm Orphanet
Posterior cortical atrophy syndrome (disorder) en Attribution Inserm Orphanet
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) en Attribution Inserm Orphanet
Posterior hypospadias en Attribution Inserm Orphanet
Posterior meningocele en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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