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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Normal variation in cutaneous pigmentation Associated morphology False kongenit anomali Inferred relationship Some
    Dyschromatosis universalis Associated morphology False kongenit anomali Inferred relationship Some 1
    Naegeli-Franceschetti-Jadassohn syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False kongenit anomali Inferred relationship Some 2
    Zosteriform reticulate hyperpigmentation Associated morphology False kongenit anomali Inferred relationship Some 2
    Cantu's syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Dermatopathia pigmentosa reticularis Associated morphology False kongenit anomali Inferred relationship Some 1
    Acromelanosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Acantholytic dyskeratotic epidermal naevus Associated morphology False kongenit anomali Inferred relationship Some
    Nevus striatus symmetricus of thumbs Associated morphology False kongenit anomali Inferred relationship Some
    Epidermal naevus syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Malformation or hamartoma of skin appendage Associated morphology False kongenit anomali Inferred relationship Some
    Malformation or hamartoma of eccrine sweat gland apparatus Associated morphology False kongenit anomali Inferred relationship Some
    Eccrine angiomatous hamartoma Associated morphology False kongenit anomali Inferred relationship Some
    Eccrine naevus Associated morphology False kongenit anomali Inferred relationship Some
    Acrosyringeal nevus Associated morphology False kongenit anomali Inferred relationship Some
    Porokeratotic eccrine ostial and dermal duct naevus Associated morphology False kongenit anomali Inferred relationship Some
    Malformation or hamartoma of apocrine sweat gland apparatus Associated morphology False kongenit anomali Inferred relationship Some
    Apocrine naevus Associated morphology False kongenit anomali Inferred relationship Some
    Syringocystadenoma papilliferum Associated morphology False kongenit anomali Inferred relationship Some
    Malformation or hamartoma of pilosebaceous apparatus Associated morphology False kongenit anomali Inferred relationship Some
    Straight hair naevus Associated morphology False kongenit anomali Inferred relationship Some
    Woolly hair naevus Associated morphology False kongenit anomali Inferred relationship Some
    Hairy malformation of palms and soles (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Hair follicle naevus Associated morphology False kongenit anomali Inferred relationship Some
    Moniliform hamartoma Associated morphology False kongenit anomali Inferred relationship Some
    cyste i den genitoperineale rafe Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumpy scalp-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of upper limb Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of complicated syndactyly Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of clinodactyly Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of upper limb congenital ring constriction band Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False kongenit anomali Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Adductor tenotomy for congenital dislocation of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of hindfoot Direct morphology False kongenit anomali Inferred relationship Some
    Soft tissue release for correction of congenital deformity of hindfoot Direct morphology False kongenit anomali Inferred relationship Some 1
    Posterolateral release for correction of congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of midfoot Direct morphology False kongenit anomali Inferred relationship Some 1
    Soft tissue release for correction of congenital deformity of midfoot Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of congenital deformity of forefoot Direct morphology False kongenit anomali Inferred relationship Some 1
    Soft tissue release for correction of congenital deformity of forefoot Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital hallux valgus Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False kongenit anomali Inferred relationship Some 1
    X-linked muscular dystrophy with limb girdle distribution Associated morphology False kongenit anomali Inferred relationship Some 2
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False kongenit anomali Inferred relationship Some 2
    Intermediate X-linked muscular dystrophy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Manifesting female carrier of X-linked muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology False kongenit anomali Inferred relationship Some 2
    Jis muskeldystrofi Associated morphology False kongenit anomali Inferred relationship Some 2
    Hereditary myopathy limited to females Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False kongenit anomali Inferred relationship Some 2
    Alvorlig autosomal recessiv muskeldystrofi i barnealderen – nordafrikansk type Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q Associated morphology False kongenit anomali Inferred relationship Some 2
    Reunion-Indiana Amish type muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit muskeldystrofi Associated morphology False kongenit anomali Inferred relationship Some 2
    Western type of congenital muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology False kongenit anomali Inferred relationship Some 2
    Ullrich congenital muscular dystrophy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Eichsfeld type congenital muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Hutterite type of muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Adult onset autosomal recessive muscular dystrophy with normal dystrophin Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology False kongenit anomali Inferred relationship Some 2
    Late onset proximal muscular dystrophy with dysarthria Associated morphology False kongenit anomali Inferred relationship Some 2
    X-linked muscular dystrophy not predominantly limb girdle Associated morphology False kongenit anomali Inferred relationship Some 2
    Benign skapuloperoneal muskeldystrofi med kardiomyopati Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology False kongenit anomali Inferred relationship Some 2
    Scapulohumeral muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology False kongenit anomali Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Benign congenital muscular dystrophy with finger flexion contractures (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Distal muskeldystrofi med debut i voksenalder Associated morphology False kongenit anomali Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Myopathy with abnormality of histochemical fibre type Associated morphology False kongenit anomali Inferred relationship Some 1
    Myopathy with type I hypotrophy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital myopathy with uniform fiber type Associated morphology False kongenit anomali Inferred relationship Some 1
    Myopathy with cytoplasmic inclusions Associated morphology False kongenit anomali Inferred relationship Some 1
    Myopathy with tubular aggregates Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditær myositis ossificans Associated morphology False kongenit anomali Inferred relationship Some 2
    Arthrogryposis (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Sjögren-Larsson syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Multiple lentigines syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Malignant atrophic papulosis Associated morphology False kongenit anomali Inferred relationship Some
    Longitudinal deficiency of tibia AND/OR fibula Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital rectovaginal fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital rectovaginal fistula Associated morphology False kongenit anomali Inferred relationship Some 4
    Male pseudohermaphroditism Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit anomali i reproduktionsapparatet Associated morphology False kongenit anomali Inferred relationship Some 1
    Embryonic cyst of epoophoron Associated morphology False kongenit anomali Inferred relationship Some 4
    Paraumbilical hernia with gangrene Associated morphology False kongenit anomali Inferred relationship Some 2
    Cutis laxa, autosomal dominant Associated morphology False kongenit anomali Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1

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