1290922001: Congenital dysplasia of lower limb (disorder)

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia of lower limb (disorder)	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of lower limb (disorder)	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of lower limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dysplasia of lower limb (disorder)	Finding site	Lower limb structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dysplasia of lower limb (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dysplasia of lower limb (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dysplasia of left lower limb	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of right lower limb (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrodysostosis	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, genetic bone disorder characterised by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Patella dysplasia	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hip dysplasia Beukes type (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia of head of femur Meyer type (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of lower limb	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of joint of knee (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis of femur (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of joint of foot	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of ankle joint (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5276616011	Congenital dysplasia of lower extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5276617019	Congenital dysplasia of lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5276618012	Congenital dysplasia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5276616011	Congenital dysplasia of lower extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5276617019	Congenital dysplasia of lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5276618012	Congenital dysplasia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core