FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

88631000119105: 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:

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

111 descendants. Search Descendants:

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
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 True 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 True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital glenoid dysplasia Is a True 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 True 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 True 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 True 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 True 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 True 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 True Congenital dysplasia of limb (disorder) Inferred relationship Some
Hip dysplasia Beukes type (disorder) Is a True 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 True Congenital dysplasia of limb (disorder) Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Developmental dislocation of ankle and/or foot (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Developmental dislocation of joint of shoulder region (disorder) Is a True 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 True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of left lower leg Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of right foot (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of right lower leg (disorder) Is a True 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

This concept is not in any reference sets

Back to Start