FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1344689004: Congenital deformity of musculoskeletal system (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
5385538018 Congenital deformity of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5385539014 Congenital deformity of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5385538018 Congenital deformity of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5385539014 Congenital deformity of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

226 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity of musculoskeletal system (disorder) Is a Congenital deformity (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of musculoskeletal system (disorder) Is a Congenital anomaly of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of musculoskeletal system (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of musculoskeletal system (disorder) Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of musculoskeletal system (disorder) Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of musculoskeletal system (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 hallux varus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracted pelvis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of knee joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hammer toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of femur (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hallux valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus valga Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital depression in skull Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of carpal bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital shortening of tendon Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus vara (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of humerus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of sacroiliac joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of hip joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of tibia AND/OR fibula Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thumb in palm deformity Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital humeral varus (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital curly toes Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital rearfoot valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital forefoot valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis/scoliosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cubitus varus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of ankle joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital angulation of tibia (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of clavicle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of lumbosacral joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachyphalangia Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of gastrocnemius muscle (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of scapula (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of tarsal bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of metacarpal bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of fibula Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachymetatarsia Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital claw toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Skull congenital deformities Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pectus excavatum (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
thorax en carène Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital crossed toes Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leg bone bowing (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Long narrow head (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metatarsus adductus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa valga Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa vara Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital mallet toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short costocoracoid ligament (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital varus ankle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital valgus ankle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hallux valgus of left great toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hallux valgus of right great toe Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital postural scoliosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital plagiocephaly with pelvic obliquity (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital positional plagiocephaly Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent humerus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent hyoid bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ilium Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ischium Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent pubis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent rib Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital metatarsus valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Talipes valgus of left foot (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Talipes valgus of right foot (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital kyphosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of bone of forearm (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis deformity of spine (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of bony orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital expansion of orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital combined bony and soft tissue deformity of orbit (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contraction of orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Persistent congenital anteversion of femur Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Plantarflexed cuboid Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alkuraya Kucinskas syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start