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84773003: Congenital anomaly of lower limb (disorder)

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)

631 descendants. Search Descendants:

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
Aberrant muscle of the lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Failure of differentiation of bones of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital overgrowth of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Kongenit underudvikling af underekstremitet Is a False Congenital anomaly of lower limb Inferred relationship Some
Constriction ring syndrome of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital leg bone bowing Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of foot and ankle Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of foot Is a False Congenital anomaly of lower limb Inferred relationship Some
Duplication of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of femur Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of fibula (disorder) Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of tibia Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital generalized flexion contractures of lower limb joints Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of hip joint Is a False Congenital anomaly of lower limb Inferred relationship Some
Syndactyly of toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of knee joint Is a False Congenital anomaly of lower limb Inferred relationship Some
Longitudinal deficiency of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital absence of toe Is a False Congenital anomaly of lower limb Inferred relationship Some
Failure of soft tissue differentiation of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Hypoplasia of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Genu recurvatum and long leg bone bowing Is a False Congenital anomaly of lower limb Inferred relationship Some
Genu recurvatum og krumning af lang benknogle, ikke nærmere specificeret Is a False Congenital anomaly of lower limb Inferred relationship Some
andre underekstremitetsanomalier Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital abnormality of lower limb and pelvic girdle Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of ankle joint Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital cyst of canal of Nuck Is a False Congenital anomaly of lower limb Inferred relationship Some
Popliteal pterygium syndrome Is a True Congenital anomaly of lower limb Inferred relationship Some
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital leg length discrepancy (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital short Achilles tendon Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital short quadriceps Is a False Congenital anomaly of lower limb Inferred relationship Some
poplitetalt pterygium-syndrom Is a False Congenital anomaly of lower limb Inferred relationship Some
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of foot Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital hydrocele (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Duplication of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
kongenit forkortet ben Is a False Congenital anomaly of lower limb Inferred relationship Some
Failure of differentiation of bones of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Kongenit underudvikling af underekstremitet Is a False Congenital anomaly of lower limb Inferred relationship Some
Constriction ring syndrome of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital ball and socket ankle Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital complete absence of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Is a False Congenital anomaly of lower limb Inferred relationship Some
Reduction deformity of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital instability of hip joint Is a False Congenital anomaly of lower limb Inferred relationship Some
kongenit forkortet ben Is a False Congenital anomaly of lower limb Inferred relationship Some
Mandibuloacral dysostosis Is a False Congenital anomaly of lower limb Inferred relationship Some
Brachydactyly of toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital crossed toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Macrodactyly of toe (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Kongenit underudvikling af fod Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of tarsal bone Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of metatarsal bone Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital curly toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Triphalangeal great toe Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital abnormal fusion of hindpaw phalanx Is a False Congenital anomaly of lower limb Inferred relationship Some
Incomplete ossification of hindpaw phalanx Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital hallux varus Is a False Congenital anomaly of lower limb Inferred relationship Some
Acrodysostosis Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital hallux valgus Is a False Congenital anomaly of lower limb Inferred relationship Some
Syndactyly of toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Perodactylia of great toe Is a False Congenital anomaly of lower limb Inferred relationship Some
Perodactylia of lesser toe Is a False Congenital anomaly of lower limb Inferred relationship Some
Polydactyly of toes Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital hammer toe Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital claw toe (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Lack of ossification of hindpaw phalanx Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital hypoplasia of hindpaw phalanx Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital dislocation of hip Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of foot and ankle Is a False Congenital anomaly of lower limb Inferred relationship Some
Deformity of toe due to amniotic band (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Longitudinal deficiency of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital contracture of gastrocnemius muscle (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital abduction contracture of hip Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital flexion contracture of hip Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of blood vessel of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital anomaly of pelvic bones Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital deformity of sacroiliac joint Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital thickening of talus Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital thickening of tarsal bone Is a False Congenital anomaly of lower limb Inferred relationship Some
Kongenit manglende ben inklusive fod OG tæer Is a False Congenital anomaly of lower limb Inferred relationship Some
Kongenit manglende ben og fod Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital absence of patella Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital absence of quadriceps muscle (disorder) Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital dislocation of knee Is a True Congenital anomaly of lower limb Inferred relationship Some
Kongenit diskoid menisk Is a False Congenital anomaly of lower limb Inferred relationship Some
Bifid patella Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital ball and socket ankle Is a True Congenital anomaly of lower limb Inferred relationship Some
Transverse deficiency of lower limb Is a True Congenital anomaly of lower limb Inferred relationship Some
Incomplete congenital absence of thigh AND leg Is a True Congenital anomaly of lower limb Inferred relationship Some
hemimeli af underekstremitet Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital cyst of canal of Nuck Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital synostosis of lower limb bones Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital fusion of sacroiliac joint (disorder) Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital abduction contracture of hip Is a False Congenital anomaly of lower limb Inferred relationship Some
Ectromelia of lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital varus ankle Is a False Congenital anomaly of lower limb Inferred relationship Some
Congenital valgus ankle Is a False Congenital anomaly of lower limb Inferred relationship Some
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Is a True Congenital anomaly of lower limb Inferred relationship Some
Congenital undergrowth of partial lower limb Is a False Congenital anomaly of lower limb Inferred relationship Some
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

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