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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
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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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)