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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
    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
    Normal variation in cutaneous pigmentation Associated morphology False anomalie congénitale Inferred relationship Some
    Dyschromatosis universalis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Naegeli-Franceschetti-Jadassohn syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False anomalie congénitale Inferred relationship Some 2
    Zosteriform reticulate hyperpigmentation Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cantu's syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Dermatopathia pigmentosa reticularis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acromelanosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Acantholytic dyskeratotic epidermal naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Nevus striatus symmetricus of thumbs Associated morphology False anomalie congénitale Inferred relationship Some
    Epidermal naevus syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Malformation or hamartoma of skin appendage Associated morphology False anomalie congénitale Inferred relationship Some
    Malformation or hamartoma of eccrine sweat gland apparatus Associated morphology False anomalie congénitale Inferred relationship Some
    Eccrine angiomatous hamartoma Associated morphology False anomalie congénitale Inferred relationship Some
    Eccrine naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Acrosyringeal nevus Associated morphology False anomalie congénitale Inferred relationship Some
    Porokeratotic eccrine ostial and dermal duct naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Malformation or hamartoma of apocrine sweat gland apparatus Associated morphology False anomalie congénitale Inferred relationship Some
    Apocrine naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Syringocystadenoma papilliferum Associated morphology False anomalie congénitale Inferred relationship Some
    Malformation or hamartoma of pilosebaceous apparatus Associated morphology False anomalie congénitale Inferred relationship Some
    Straight hair naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Woolly hair naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Hairy malformation of palms and soles Associated morphology False anomalie congénitale Inferred relationship Some
    Hair follicle naevus Associated morphology False anomalie congénitale Inferred relationship Some
    Moniliform hamartoma Associated morphology False anomalie congénitale Inferred relationship Some
    Genitoperineal raphe cyst Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumpy scalp syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of upper limb Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of complicated syndactyly Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of clinodactyly Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of upper limb congenital ring constriction band Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False anomalie congénitale Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 2
    Adductor tenotomy for congenital dislocation of hip Direct morphology False anomalie congénitale Inferred relationship Some 2
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of hindfoot Direct morphology False anomalie congénitale Inferred relationship Some
    Soft tissue release for correction of congenital deformity of hindfoot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Posterolateral release for correction of congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of midfoot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Soft tissue release for correction of congenital deformity of midfoot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity of forefoot (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Soft tissue release for clubfoot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital hallux valgus Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False anomalie congénitale Inferred relationship Some 1
    X-linked muscular dystrophy with limb girdle distribution Associated morphology False anomalie congénitale Inferred relationship Some 2
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False anomalie congénitale Inferred relationship Some 2
    Intermediate X-linked muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Manifesting female carrier of X-linked muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ji muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hereditary myopathy limited to females Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False anomalie congénitale Inferred relationship Some 2
    Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False anomalie congénitale Inferred relationship Some 2
    Reunion-Indiana Amish type muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Western type of congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ullrich congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Eichsfeld type congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hutterite type of muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Adult onset autosomal recessive muscular dystrophy with normal dystrophin Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology False anomalie congénitale Inferred relationship Some 2
    Late onset proximal muscular dystrophy with dysarthria Associated morphology False anomalie congénitale Inferred relationship Some 2
    X-linked muscular dystrophy not predominantly limb girdle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Scapulohumeral muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False anomalie congénitale Inferred relationship Some 2
    Distal muscular dystrophy with adult onset Associated morphology False anomalie congénitale Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myopathy with abnormality of histochemical fibre type Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myopathy with type I hypotrophy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital myopathy with fibre type disproportion Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital myopathy with uniform fiber type Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myopathy with cytoplasmic inclusions Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myopathy with tubular aggregates Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hereditary myositis ossificans Associated morphology False anomalie congénitale Inferred relationship Some 2
    Arthrogryposis Associated morphology False anomalie congénitale Inferred relationship Some
    Sjögren-Larsson syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Multiple lentigines syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Malignant atrophic papulosis Associated morphology False anomalie congénitale Inferred relationship Some
    Longitudinal deficiency of tibia AND/OR fibula Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital rectovaginal fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital rectovaginal fistula Associated morphology False anomalie congénitale Inferred relationship Some 4
    Male pseudohermaphroditism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of genital system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Embryonic cyst of epoophoron Associated morphology False anomalie congénitale Inferred relationship Some 4
    Paraumbilical hernia with gangrene Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cutis laxa, autosomal dominant Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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