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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
multisystemsygdom	Is a	Disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucociliary clearance defect	Is a	False	multisystemsygdom	Inferred relationship	Some
Coital disorder	Is a	False	multisystemsygdom	Inferred relationship	Some
multiorgandysfunktionssyndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
genetisk syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Behcet's syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder W-X	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder A-B	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder C-D	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder E-F (navigational concept)	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder G-H	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder I-J	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder K-L	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder M-N	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder O-P	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder Q-R	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder S-T (navigational concept)	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder U-V	Is a	False	multisystemsygdom	Inferred relationship	Some
Multisystem disorder Y-Z	Is a	False	multisystemsygdom	Inferred relationship	Some
Cholestasis-edema syndrome, Norwegian type	Is a	False	multisystemsygdom	Inferred relationship	Some
Multiple organ failure	Is a	False	multisystemsygdom	Inferred relationship	Some
Pena-Shokeirs fænotype	Is a	False	multisystemsygdom	Inferred relationship	Some
Goldenhar syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Incontinentia pigmenti	Is a	False	multisystemsygdom	Inferred relationship	Some
Enamel-renal syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
van der Hoeves syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Bannayan syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Nail patella-like renal disease	Is a	False	multisystemsygdom	Inferred relationship	Some
Pulmonic stenosis and congenital nephrosis	Is a	False	multisystemsygdom	Inferred relationship	Some
Renal dysplasia and retinal aplasia	Is a	False	multisystemsygdom	Inferred relationship	Some
Renal tubular acidosis with progressive nerve deafness	Is a	False	multisystemsygdom	Inferred relationship	Some
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	multisystemsygdom	Inferred relationship	Some
Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes	Is a	False	multisystemsygdom	Inferred relationship	Some
A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	Is a	False	multisystemsygdom	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	False	multisystemsygdom	Inferred relationship	Some
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency	Is a	False	multisystemsygdom	Inferred relationship	Some
hypogonadisme, diabetes mellitus, alopeci, mental retardering og elektrokardiografiske anomalier	Is a	False	multisystemsygdom	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	False	multisystemsygdom	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	multisystemsygdom	Inferred relationship	Some
de Barsy-syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Chronic infantile neurological, cutaneous and articular syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
primært Sjögrens syndrom med multisysteminvolvering	Is a	False	multisystemsygdom	Inferred relationship	Some
sekundært Sjögrens syndrom med multisysteminvolvering	Is a	False	multisystemsygdom	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	False	multisystemsygdom	Inferred relationship	Some
recessiv kongenit iktyosiform erytrodermi	Is a	False	multisystemsygdom	Inferred relationship	Some
Pachydermoperiostosis - familial	Is a	False	multisystemsygdom	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	False	multisystemsygdom	Inferred relationship	Some
Francois syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Floating-Harbour syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Kabuki make-up syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Atrophia bulborum hereditaria (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of 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	multisystemsygdom	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Is a	False	multisystemsygdom	Inferred relationship	Some
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. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Is a	False	multisystemsygdom	Inferred relationship	Some
Sarcoidosis	Is a	False	multisystemsygdom	Inferred relationship	Some
Rabson-Mendenhall syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Chronic fatigue syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
testikulær feminisering	Is a	False	multisystemsygdom	Inferred relationship	Some
Hereditary nephritis	Is a	False	multisystemsygdom	Inferred relationship	Some
Retinitis pigmentosa-deafness syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Cowden syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
SAPHO syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Gardner syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Adiposogenital dystrophy (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	Is a	False	multisystemsygdom	Inferred relationship	Some
Bartters syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Hereditary coproporphyria	Is a	False	multisystemsygdom	Inferred relationship	Some
Dyskeratosis congenita	Is a	False	multisystemsygdom	Inferred relationship	Some
DiGeorges syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Aicardi's syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Multiple system malformation syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Systemic sclerosis	Is a	False	multisystemsygdom	Inferred relationship	Some
Shwachman syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Hermansky-Pudlak syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Hypogonadism with anosmia	Is a	False	multisystemsygdom	Inferred relationship	Some
Guerin-Stern syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Gorlin-Chaudhry-Moss syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Weill-Marchesanis syndrom	Is a	False	multisystemsygdom	Inferred relationship	Some
Oculo-palato-digital syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Noonan's syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
langerhanscelle-histiocytose (cerebral manifestation)	Is a	False	multisystemsygdom	Inferred relationship	Some
Acrocephalosyndactyly	Is a	False	multisystemsygdom	Inferred relationship	Some
Oculomandibular dysostosis	Is a	False	multisystemsygdom	Inferred relationship	Some
Costello syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
sklerodermi	Is a	False	multisystemsygdom	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Danon disease	Is a	False	multisystemsygdom	Inferred relationship	Some
Nance-Horan syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Renal coloboma syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Is a	False	multisystemsygdom	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Iris coloboma with ptosis, hypertelorism, and mental retardation	Is a	False	multisystemsygdom	Inferred relationship	Some

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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
2247081000005118	multisystemsygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)