FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  FHIR Version n/a  User: [n/a]

107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Other specified conditions due to autosomal anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified conditions due to autosomal anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Turner's phenotype, other variant karyotypes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Turner's syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified sex chromosome anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital CNS anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital arthrogryposis due to teratogen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4
    Translocation Down syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital syringomyelia (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ectopic gastric mucosa - multiple sites (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chiari malformation type II (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pallister-Killian syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fibrosis syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fibrosis of inferior rectus muscle (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    dysplasie du cortex cérébral Associated morphology False anomalie congénitale Inferred relationship Some 2
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Café-au-lait spots and ring chromosome 11 Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal chromosomal disorder (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    XXYY syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Poly Y syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus of late onset Associated morphology False anomalie congénitale Inferred relationship Some 3
    Spina bifida with hydrocephalus of late onset Associated morphology False anomalie congénitale Inferred relationship Some 4
    Sturge-Weber syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Axenfeld anomaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of uvula Associated morphology False anomalie congénitale Inferred relationship Some 2
    Levoatrial cardinal vein Associated morphology False anomalie congénitale Inferred relationship Some 1
    Levoatrial cardinal vein Associated morphology False anomalie congénitale Inferred relationship Some 2
    Micropapilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Micropapilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Specified optic disc anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified optic disc anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital epicardial cyst Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital epicardial cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Absence of superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absence of superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital uterovesical fistula Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital uterovesical fistula Associated morphology False anomalie congénitale Inferred relationship Some 3
    Female epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Female epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Reduction of gigantism of foot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Reduction of gigantism of foot Direct morphology False anomalie congénitale Inferred relationship Some 3
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 3
    Release of syndactyly of toes Direct morphology False anomalie congénitale Inferred relationship Some 2
    Release of syndactyly of toes Direct morphology False anomalie congénitale Inferred relationship Some 3
    Amputation of supernumerary toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Amputation of supernumerary toe Direct morphology False anomalie congénitale Inferred relationship Some 3
    Correction of congenital crossed toes Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital crossed toes Direct morphology False anomalie congénitale Inferred relationship Some 3
    Reduction of macrodactyly of toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Reduction of macrodactyly of toe Direct morphology False anomalie congénitale Inferred relationship Some 3
    Failure of differentiation of bones of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Failure of differentiation of bones of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital synostosis of lower limb bones (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital synostosis of lower limb bones (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Duplication of lower limb bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital undergrowth of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital undergrowth of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital undergrowth of whole of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital undergrowth of whole of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Constriction ring syndrome of lower limb (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Constriction ring syndrome of lower limb (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Constriction ring of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Constriction ring of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Constriction ring of lower limb with lymphedema Associated morphology False anomalie congénitale Inferred relationship Some 1
    Constriction ring of lower limb with lymphedema Associated morphology False anomalie congénitale Inferred relationship Some 2
    Constriction ring syndrome of lower limb with amputation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Constriction ring syndrome of lower limb with amputation Associated morphology False anomalie congénitale Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal palmar creases Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pachydermoperiostosis of nail Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pachydermoperiostosis of nail Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anterior perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Posterior perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Posterior perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pulmonary tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ichthyosis congenita with biliary atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of bone and joint Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False anomalie congénitale Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False anomalie congénitale Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False anomalie congénitale Inferred relationship Some 4

    Start Previous Page 66 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start