84773003: Congenital anomaly 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
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

140543018 Congenital anomaly of lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

826687010 Congenital anomaly of lower limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2986041000005118 kongenit anomali i underekstremitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of lower limb	Is a	Congenital abnormality of lower limb and pelvic girdle	false	Inferred relationship	Some
Congenital anomaly of lower limb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of lower limb	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital anomaly of lower limb	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Some
Congenital anomaly of lower limb	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Congenital anomaly of lower limb	Is a	Disorder of lower limb	true	Inferred relationship	Some
Congenital anomaly of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	1
Congenital anomaly of lower limb	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of lower limb	Is a	Congenital abnormality of lower limb and pelvic girdle	true	Inferred relationship	Some
Congenital anomaly of lower limb	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	true	Inferred relationship	Some	1
Congenital anomaly of lower limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of lower limb	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	2
Congenital anomaly of lower limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of lower limb	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of lower limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital absence of pelvis and lower limb	Is a	True	Congenital anomaly of lower limb	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	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital sacral meningocele	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital genu valgum	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital hypoplasia of patella (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Pygopagus	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital wide symphysis pubis (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Hypoplasia of sacrum (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital deformity of left lower limb (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital deformity of right lower limb	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Patella dysplasia	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital lumbosacral fusion	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Aplasia of patella	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital inguinal hernia (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital flexion contracture of knee	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital extension contracture of the knee	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital hydrocele of canal of Nuck (disorder)	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Intrauterine amputation of lower limb	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of patella (disorder)	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Phocomelia of lower limb	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of ilium	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of ischium	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of pubis	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Excision of anlage of fibula	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Excision of anlage of tibia	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Centralization tarsus correction	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Omvendt rotationsplastik på ankel	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Gruca tibial bifurcation procedure	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Creation of tibiofibular synostosis	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	1
Correction of tibial pseudoarthrosis by excision and bone lengthening	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Correction of tibial pseudoarthrosis by free fibula graft	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	4
Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Repair of congenital pseudoarthrosis of tibia	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	3
Correction of congenital deformity of lower limb (procedure)	Has focus	False	Congenital anomaly of lower limb	Inferred relationship	Some	2
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.	Is a	False	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital deformity of lower limb (disorder)	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of left lower limb	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital anomaly of right lower limb (disorder)	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Correction of congenital anomaly of lower limb	Has focus	True	Congenital anomaly of lower limb	Inferred relationship	Some	2
Congenital dysplasia of lower limb (disorder)	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Congenital discoid meniscus of knee (disorder)	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Aplasia of bone of lower limb	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some
Aplasia of muscle of thigh	Is a	True	Congenital anomaly of lower limb	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
140543018	Congenital anomaly of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
826687010	Congenital anomaly of lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986041000005118	kongenit anomali i underekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)