1290922001: Congenital dysplasia of lower limb (disorder)

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

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

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

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

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	Some
Congenital dysplasia of lower limb (disorder)	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some
Congenital dysplasia of lower limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dysplasia of lower limb (disorder)	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	true	Inferred relationship	Some	1
Congenital dysplasia of lower limb (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia of lower limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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	Some
Congenital dysplasia of right lower limb (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Acrodysostosis	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital hip dysplasia	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
A rare, genetic bone disorder characterized 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	Some
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	Some
Patella dysplasia	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
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	Some
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Mesomelic dysplasia of lower limb	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital dysplasia of joint of knee (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Melorheostosis of femur (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital dysplasia of joint of foot	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital dysplasia of ankle joint (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital dysplasia of head of femur (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Congenital dysplasia of nail unit of toe (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some
Melorheostosis of ankle region (disorder)	Is a	True	Congenital dysplasia of lower limb (disorder)	Inferred relationship	Some

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