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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
    Pili annulati Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bilocularis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Goltz syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pes planus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Metatarsus adductus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dislocation of glenohumeral joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperfect fusion of skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Associated morphology False Congenital anomaly Inferred relationship Some
    Mutilating keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Townes syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Potter's facies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Coalition of calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 2
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 3
    Uterus parvicollis Associated morphology False Congenital anomaly Inferred relationship Some 2
    HSMN IV Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primordial cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group C Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of macrodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Senter syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Uterus incudiformis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis marmorata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa with absence of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital deformity of hip joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of hepatic duct without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acquired epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pyloric atresia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of ankle joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mesenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Inherited arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of coronary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis palmaris et plantaris Associated morphology False Congenital anomaly Inferred relationship Some
    Trigonocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Weill-Marchesani syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Camptodactyly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Glycogen storage disease, type VI Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniolacunia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Notomelus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pemberton osteotomy operation of ilium Direct morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital adhesions of peritoneum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paraumbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Porokeratosis of Mibelli, superficial disseminated type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital choledochal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Bicornuate uterus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of lower alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fiber type disproportion myopathy Associated morphology False Congenital anomaly Inferred relationship Some
    Floppy infant syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinovarus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anorectal anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Radioulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Marshall syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Adult junctional epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital coxa valga Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hand (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dimelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Zebra body myopathy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of upper alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lamellar ichthyosis AND trichorrhexis invaginata syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hanhart's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nager syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal communication between pericardial sac and pleura Associated morphology False Congenital anomaly Inferred relationship Some 4
    Infantile uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naevus comedonicus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fibrous skin tumor of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with cholecystitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lethal glossopharyngeal defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hepatomphalocele Associated morphology False Congenital anomaly Inferred relationship Some 5
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital uterine anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periodontal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Functional asplenia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus arcuatus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of appendix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Scapulopexy Direct morphology False Congenital anomaly Inferred relationship Some 3
    Tricho-dento-osseous syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Brachyphalangia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epidermolysis bullosa simplex of the hands AND/OR feet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subungual fibroma Associated morphology False Congenital anomaly Inferred relationship Some
    Redundant prepuce Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital depression in skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrocolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mietens syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Annular pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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