41443008: Multiple malformation syndrome with limb defect as major feature (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

69120017 Multiple malformation syndrome with limb defect as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69121018 Multiple malformation syndrome with limb defect as major feature, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
778232013 Multiple malformation syndrome with limb defect as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2513451000052118 multipelt missbildningssyndrom med extremitetsdefekt som mest väsentliga särdrag sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome with limb defect as major feature	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome with limb defect as major feature	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome with limb defect as major feature	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Multiple malformation syndrome with limb defect as major feature	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome with limb defect as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Multiple malformation syndrome with limb defect as major feature	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Multiple malformation syndrome with limb defect as major feature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Femoral hypoplasia - unusual facies syndrome	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Child syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Holt-Oram syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Levy-Hollister syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Adams-Oliver syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Poland anomaly	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Popliteal pterygium syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aase syndrome	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Grebe syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Escobar syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
polysyndaktylisyndrom	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Popliteal web syndrome	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
RAPADILINO syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Ophthalmo-acromelic syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Limb body wall complex (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Absence deformity of leg and congenital cataract syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Mammary digital nail syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
WT limb blood syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
DK phocomelia syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Acropectoral syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
akropektororenal dysplasi	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Acrorenoocular syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Acropectorovertebral dysplasia (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Acrorenal syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Campomelia Cumming type (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 2 (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aniridia and absent patella syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Cenani Lenz syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Capra DeMarco syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Craniosynostosis Philadelphia type (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Curry Jones syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Fibular dimelia diplopodia syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Angel-shaped phalangoepiphyseal dysplasia (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Heart defect and limb shortening syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Heart-hand syndrome type 2 (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Heart-hand syndrome type 3 (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Short fifth metacarpal insulin resistance syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aplasia of fibula and ectrodactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Congenital microgastria with limb reduction defect syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Karsch Neugebauer syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Fuhrmann syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Split hand, split foot malformation with sensorineural hearing loss syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
syndrom med paraplegi, brakydaktyli och konformad epifys	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Caudal appendage deafness syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Congenital hypoplasia of ulna and split foot syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Camptobrachydactyly (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Banki syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Camptodactyly taurinuria syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
syndrom med mikrocefali, digital anomali och intellektuell funktionsnedsättning	Is a	False	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Dandy-Walker malformation with postaxial polydactyly syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome (disorder)	Is a	True	Multiple malformation syndrome with limb defect as major feature	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
69120017	Multiple malformation syndrome with limb defect as major feature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
69121018	Multiple malformation syndrome with limb defect as major feature, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
778232013	Multiple malformation syndrome with limb defect as major feature (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2513451000052118	multipelt missbildningssyndrom med extremitetsdefekt som mest väsentliga särdrag	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)