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281867008: Multisystem disorder (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    420000012 Multisystem disorders en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1187539010 Multisystem disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208719010 Multisystem disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Multisystem disorder Is a Disease false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Mucociliary clearance defect Is a False Multisystem disorder Inferred relationship Some
    Coital disorder Is a False Multisystem disorder Inferred relationship Some
    Multiple organ dysfunction syndrome Is a False Multisystem disorder Inferred relationship Some
    Genetic syndrome Is a False Multisystem disorder Inferred relationship Some
    Behcet's syndrome Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder W-X Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder A-B Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder C-D Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder E-F Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder G-H Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder I-J Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder K-L Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder M-N Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder O-P Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder Q-R Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder S-T Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder U-V Is a False Multisystem disorder Inferred relationship Some
    Multisystem disorder Y-Z Is a False Multisystem disorder Inferred relationship Some
    Cholestasis-edema syndrome, Norwegian type Is a False Multisystem disorder Inferred relationship Some
    Multiple organ failure Is a False Multisystem disorder Inferred relationship Some
    Pena-Shokeir phenotype Is a False Multisystem disorder Inferred relationship Some
    Goldenhar syndrome Is a False Multisystem disorder Inferred relationship Some
    Incontinentia pigmenti Is a False Multisystem disorder Inferred relationship Some
    Enamel-renal syndrome Is a False Multisystem disorder Inferred relationship Some
    van de Hoeve syndrome Is a False Multisystem disorder Inferred relationship Some
    Bannayan syndrome Is a False Multisystem disorder Inferred relationship Some
    Nail patella-like renal disease Is a False Multisystem disorder Inferred relationship Some
    Pulmonic stenosis and congenital nephrosis Is a False Multisystem disorder Inferred relationship Some
    Renal dysplasia and retinal aplasia Is a False Multisystem disorder Inferred relationship Some
    Renal tubular acidosis with progressive nerve deafness Is a False Multisystem disorder Inferred relationship Some
    Hereditary benign acanthosis nigricans with insulin resistance Is a False Multisystem disorder Inferred relationship Some
    Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder) Is a False Multisystem disorder Inferred relationship Some
    Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Is a False Multisystem disorder Inferred relationship Some
    A rare hereditary ataxia characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. Is a False Multisystem disorder Inferred relationship Some
    Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a False Multisystem disorder Inferred relationship Some
    Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Is a False Multisystem disorder Inferred relationship Some
    Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Multisystem disorder Inferred relationship Some
    Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a False Multisystem disorder Inferred relationship Some
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Is a False Multisystem disorder Inferred relationship Some
    de Barsy syndrome Is a False Multisystem disorder Inferred relationship Some
    Chronic infantile neurological, cutaneous and articular syndrome Is a False Multisystem disorder Inferred relationship Some
    Primary Sjögren's syndrome with multisystem involvement Is a False Multisystem disorder Inferred relationship Some
    Secondary Sjögren's syndrome with multisystem involvement Is a False Multisystem disorder Inferred relationship Some
    Chédiak-Higashi syndrome Is a False Multisystem disorder Inferred relationship Some
    Walker-Warburg congenital muscular dystrophy Is a False Multisystem disorder Inferred relationship Some
    Tricho-thiodystrophy Is a False Multisystem disorder Inferred relationship Some
    Pachydermoperiostosis - familial Is a False Multisystem disorder Inferred relationship Some
    Oculodento-osseous dysplasia Is a False Multisystem disorder Inferred relationship Some
    Francois syndrome Is a False Multisystem disorder Inferred relationship Some
    Floating-Harbor syndrome Is a False Multisystem disorder Inferred relationship Some
    Kabuki make-up syndrome Is a False Multisystem disorder Inferred relationship Some
    Atrophia bulborum hereditaria Is a False Multisystem disorder Inferred relationship Some
    A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Is a False Multisystem disorder Inferred relationship Some
    A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Is a False Multisystem disorder Inferred relationship Some
    Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Is a False Multisystem disorder Inferred relationship Some
    Sarcoidosis Is a False Multisystem disorder Inferred relationship Some
    Rabson-Mendenhall syndrome Is a False Multisystem disorder Inferred relationship Some
    Von Hippel-Lindau syndrome Is a False Multisystem disorder Inferred relationship Some
    CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a False Multisystem disorder Inferred relationship Some
    Chronic fatigue syndrome Is a False Multisystem disorder Inferred relationship Some
    Testicular feminization Is a False Multisystem disorder Inferred relationship Some
    Hereditary nephritis Is a False Multisystem disorder Inferred relationship Some
    Retinitis pigmentosa-deafness syndrome Is a False Multisystem disorder Inferred relationship Some
    Cowden syndrome Is a False Multisystem disorder Inferred relationship Some
    Klippel-Trenaunay-Weber syndrome Is a False Multisystem disorder Inferred relationship Some
    SAPHO syndrome Is a False Multisystem disorder Inferred relationship Some
    Gardner syndrome (disorder) Is a False Multisystem disorder Inferred relationship Some
    Adiposogenital dystrophy Is a False Multisystem disorder Inferred relationship Some
    Pili torti-deafness syndrome Is a False Multisystem disorder Inferred relationship Some
    Acrocephalosyndactyly type V (disorder) Is a False Multisystem disorder Inferred relationship Some
    A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Is a False Multisystem disorder Inferred relationship Some
    Pseudoprimary aldosteronism Is a False Multisystem disorder Inferred relationship Some
    Hereditary coproporphyria Is a False Multisystem disorder Inferred relationship Some
    Dyskeratosis congenita Is a False Multisystem disorder Inferred relationship Some
    DiGeorge sequence Is a False Multisystem disorder Inferred relationship Some
    Aicardi's syndrome Is a False Multisystem disorder Inferred relationship Some
    Multiple system malformation syndrome Is a False Multisystem disorder Inferred relationship Some
    Systemic sclerosis Is a False Multisystem disorder Inferred relationship Some
    Shwachman syndrome Is a False Multisystem disorder Inferred relationship Some
    Hermansky-Pudlak syndrome Is a False Multisystem disorder Inferred relationship Some
    Hypogonadism with anosmia Is a False Multisystem disorder Inferred relationship Some
    Guerin-Stern syndrome Is a False Multisystem disorder Inferred relationship Some
    Gorlin-Chaudhry-Moss syndrome Is a False Multisystem disorder Inferred relationship Some
    Marchesani syndrome Is a False Multisystem disorder Inferred relationship Some
    Oculo-palato-digital syndrome Is a False Multisystem disorder Inferred relationship Some
    Noonan's syndrome Is a False Multisystem disorder Inferred relationship Some
    Ayala's disease Is a False Multisystem disorder Inferred relationship Some
    Acrocephalosyndactyly Is a False Multisystem disorder Inferred relationship Some
    Oculomandibular dysostosis Is a False Multisystem disorder Inferred relationship Some
    Costello syndrome Is a False Multisystem disorder Inferred relationship Some
    Incontinentia pigmenti syndrome Is a False Multisystem disorder Inferred relationship Some
    Scleroderma Is a False Multisystem disorder Inferred relationship Some
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a False Multisystem disorder Inferred relationship Some
    Danon disease Is a False Multisystem disorder Inferred relationship Some
    Nance-Horan syndrome (disorder) Is a False Multisystem disorder Inferred relationship Some
    Renal coloboma syndrome (disorder) Is a False Multisystem disorder Inferred relationship Some
    A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Is a False Multisystem disorder Inferred relationship Some
    Chromosome 2q37 deletion syndrome Is a False Multisystem disorder Inferred relationship Some
    Craniofacial deafness hand syndrome (disorder) Is a False Multisystem disorder Inferred relationship Some
    Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome Is a False Multisystem disorder Inferred relationship Some
    Iris coloboma with ptosis, hypertelorism, and mental retardation Is a False Multisystem disorder Inferred relationship Some

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