FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Constriction ring of lower limb with lymphoedema Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intrauterine amputation of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital varus ankle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital valgus ankle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sacral agenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Defect of vertebral segmentation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Accessory rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Osteopetrosis - delayed type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Harlequin ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lamellar ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incontinentia pigmenti syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Keratoderma areata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ovarian dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Release of high riding scapula Direct morphology False Congenital anomaly Inferred relationship Some 2
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vomero-premaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Interfrontal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Parieto-occipital craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Scaphocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory cuboid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory navicular bone of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Steatocystoma multiplex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supernumerary permanent tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supernumerary tooth identifiable by tooth number Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supernumerary tooth unidentifiable by tooth number Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple supernumerary teeth unrelated to systemic condition Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple supernumerary teeth related to systemic condition Associated morphology False Congenital anomaly Inferred relationship Some 1
    Buccal bifurcation cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Riedel's lobe of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cystic testicular dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Residual cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dental arch length loss secondary to congenitally missing teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acquired myelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Internal malleolar torsion Associated morphology False Congenital anomaly Inferred relationship Some 1
    External malleolar torsion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital forefoot varus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital rearfoot varus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital talipes calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital opacity Is a False Congenital anomaly Inferred relationship Some
    Pulmonary tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    McCauley operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Conical supernumerary tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tuberculate supernumerary tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lip pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Commissural lip pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline sinus of the upper lip Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gelman operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Tracheo-oesophageal fistula without atresia of oesophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial absence of villi Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital disorder of gallbladder and biliary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retained bile duct stone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bile duct leakage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Polycystic disease of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cystic fibrosis of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Strangulated umbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital umbilical defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Evans operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital familial idiopathic priapism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turco operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Goldner operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Bone and joint malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Linear porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Giant porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disseminated superficial porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrokerato-elastoidosis Associated morphology False Congenital anomaly Inferred relationship Some
    Howel-Evans' syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mantoux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Generalised essential telangiectasia Associated morphology False Congenital anomaly Inferred relationship Some
    Genodermatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple tumour syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Basan syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Greither type of ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Tricho-onychodental dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Congenital anomaly Inferred relationship Some
    Schoepf-Schulz-Passage syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Odonto-onychial dysplasia with alopecia Associated morphology False Congenital anomaly Inferred relationship Some
    Fried's tooth and nail syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Dermodental dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Salamon's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Congenital anomaly Inferred relationship Some
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital anomaly Inferred relationship Some

    Start Previous Page 6 of 124 Next End

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start