FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4-SNAPSHOT  |  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

    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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular sinus or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital enlargement Is a False Congenital anomaly Inferred relationship Some
    Posterolateral release for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary osteotomy of pelvis for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cloverleaf skull syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Saethre-Chotzen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Humeroulnar synostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False Congenital anomaly Inferred relationship Some 1
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Salter osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Craniosynostosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Osteotomy of ilium for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tracheobronchomegaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cyclops hypognathus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oto-onycho-peroneal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ulnar and humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chiari osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cyst of canal of Nuck Associated morphology False Congenital anomaly Inferred relationship Some 2
    Colonna osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital palato-oesophageal incoordination Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Opocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital choledochal cyst (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Schprintzen Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brachycephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicoronal craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unicoronal craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ulnar and humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephalosyndactyly type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Humeroulnar synostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Release of subtalar joint for correction congenital deformity of foot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of right heart Associated morphology False Congenital anomaly Inferred relationship Some 2
    Oto-onycho-peroneal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oto-onycho-peroneal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Oto-onycho-peroneal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Septo-optic dysplasia sequence Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterolateral release for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of metacarpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of syndactyly of fingers using skin graft Direct morphology False Congenital anomaly Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of ulna Associated morphology False Congenital anomaly Inferred relationship Some 1
    Stabilization of hypoplastic thumb Direct morphology False Congenital anomaly Inferred relationship Some 2
    Repair of syndactyly Direct morphology False Congenital anomaly Inferred relationship Some 2
    Longitudinal deficiency of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of tibia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clinodactyly with osteotomy and bone graft Direct morphology False Congenital anomaly Inferred relationship Some 2
    Realignment of congenital ulnar drift Direct morphology False Congenital anomaly Inferred relationship Some 1
    Caudal hemivertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of syndactyly of fingers using skin expander (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of radius AND ulna Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of radius AND ulna Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectromelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Some
    Longitudinal deficiency of radius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    Acrocephalosyndactyly type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Reduction of gigantism of hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Release of subtalar joint for correction congenital deformity of foot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital palato-oesophageal incoordination Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of metatarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of tibia AND/OR fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meromicrosomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of mirror hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of camptodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction of macrodactyly of hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Undergrowth of whole limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of phalanges of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of complicated syndactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clinodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False Congenital anomaly Inferred relationship Some 2
    Longitudinal deficiency of limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Split spinal cord malformation (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lunate-triquetrum synostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atrioventricular septal defect with separate atrioventricular orifices (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left ventricular outflow tract obstruction due to diaphragm (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nance-Horan syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Longitudinal deficiency of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of metacarpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of metatarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1

    Start Previous Page 117 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start