88631000119105: Congenital dysplasia of limb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia of limb (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Congenital dysplasia of limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Congenital dysplasia of limb (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Baller-Gerold syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrodysostosis	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Brachydactyly syndrome type E	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Holt-Oram syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Madelung's deformity	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Mesomelic dysplasia	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Tetramelic monodactyly	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Bipartite talus (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Carney complex, trismus, pseudocamptodactyly syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Patella dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Pelvis shoulder dysplasia (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Pelviscapular dysplasia	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofrontofacionasal dysostosis (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Palagonia type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Angel-shaped phalangoepiphyseal dysplasia (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Heart-hand syndrome type 2 (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Heart-hand syndrome type 3 (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Hip dysplasia Beukes type (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofrontofacionasal dysostosis type 2	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Pili torti onychodysplasia syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Dysplasia of head of femur Meyer type (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Developmental dislocation of joint of shoulder region	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Sugarman brachydactyly (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of left foot (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of left lower leg	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of right foot (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of right lower leg (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of right upper limb (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of left upper limb (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Rhizomelic dysplasia (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Femur fibula ulna complex	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of lower limb (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of humerus (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of joint of shoulder region	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of bone of hand (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of bone of forearm	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Melorheostosis of shoulder region (disorder)	Is a	True	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Madelung's deformity	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Laryngo-onychocutaneous syndrome	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Canine trochlear notch incongruity	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Yellow nails	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrodysostosis	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Patella dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Brachydactyly syndrome type E	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Baller-Gerold syndrome	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of left hip	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Congenital dysplasia of right hip	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Dysplasia of head of femur Meyer type (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Porokeratosis plantaris palmaris et disseminata (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Dysplasia of trochlea of femur (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Pelvis shoulder dysplasia (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofrontofacionasal dysostosis (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Holt-Oram syndrome	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Coxopodopatellar syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	False	Congenital dysplasia of limb (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
5247870012	Congenital dysplasia of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5247871011	Congenital dysplasia of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
708971000119115	Dysplasia of limb (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	US National Library of Medicine maintained module (core metadata concept)
708981000119117	Dysplasia of limb	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	US National Library of Medicine maintained module (core metadata concept)