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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

147 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
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
Oculootoradial syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism 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
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Is a False 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
Pelviscapular dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Ballard syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Oculodento-osseous dysplasia Is a False 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 False 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 False Congenital dysplasia of limb (disorder) Inferred relationship Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Postaxial tetramelic oligodactyly Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Ectrodactyly polydactyly syndrome Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Tetramelic monodactyly Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Autosomal recessive nail dysplasia 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
Developmental dislocation of ankle and/or foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Mesomelic dysplasia of upper limb (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
Sugarman brachydactyly (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a False 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 False Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of left upper limb (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Pierpont syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Femur fibula ulna complex Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some

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