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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth defects Associated morphology False Congenital anomaly Inferred relationship Some
    Odontotrichomelic syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Orofacial-digital syndrome III Associated morphology False Congenital anomaly Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False Congenital anomaly Inferred relationship Some 2
    Berlin syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-nail defect Associated morphology False Congenital anomaly Inferred relationship Some
    Tricho-oculodermovertebral syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Kirman syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Congenital anomaly Inferred relationship Some
    Dento-oculocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Sandman-Andra syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with nail defect Associated morphology False Congenital anomaly Inferred relationship Some
    Triphalangeal thumbs with onychodystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrosis with neurolabyrinthitis Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Multiple benign annular creases of extremities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reticulate pigmented anomaly of flexures Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary clubbing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Flynn-Aird syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Cutaneous syndrome with ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratitis ichthyosis and deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Some 3
    Erythrokeratoderma progressiva of Gottron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratolytic winter erythema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma transgrediens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acroerythrokeratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Progressive palmoplantar keratoderma of Greither Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolytic palmoplantar keratoderma of Vorner Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital palmoplantar and perioral keratoderma of Olmsted Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with pachyonychia congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma with leucoplakia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar hyperkeratosis sclerodactyly syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with intellectual disability and spastic paraplegia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited cutaneous hyperpigmentation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Normal variation in cutaneous pigmentation Associated morphology False Congenital anomaly Inferred relationship Some
    Dyschromatosis universalis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naegeli-Franceschetti-Jadassohn syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False Congenital anomaly Inferred relationship Some 2
    Zosteriform reticulate hyperpigmentation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cantu's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Dermatopathia pigmentosa reticularis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acromelanosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acantholytic dyskeratotic epidermal naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Naevus striatus symmetricus of thumbs Associated morphology False Congenital anomaly Inferred relationship Some
    Epidermal naevus syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Malformation or hamartoma of skin appendage Associated morphology False Congenital anomaly Inferred relationship Some
    Malformation or hamartoma of eccrine sweat gland apparatus Associated morphology False Congenital anomaly Inferred relationship Some
    Eccrine angiomatous hamartoma Associated morphology False Congenital anomaly Inferred relationship Some
    Eccrine naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Acrosyringeal naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Porokeratotic eccrine ostial and dermal duct naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Malformation or hamartoma of apocrine sweat gland apparatus Associated morphology False Congenital anomaly Inferred relationship Some
    Apocrine naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Syringocystadenoma papilliferum Associated morphology False Congenital anomaly Inferred relationship Some
    Malformation or hamartoma of pilosebaceous apparatus Associated morphology False Congenital anomaly Inferred relationship Some
    Straight hair naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Woolly hair naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Hairy malformation of palms and soles Associated morphology False Congenital anomaly Inferred relationship Some
    Hair follicle naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Moniliform hamartoma Associated morphology False Congenital anomaly Inferred relationship Some
    Genitoperineal raphe cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumpy scalp syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of upper limb Direct 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
    Correction of upper limb congenital ring constriction band Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False Congenital anomaly Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Adductor tenotomy for congenital dislocation of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hindfoot Direct morphology False Congenital anomaly Inferred relationship Some
    Soft tissue release for correction of congenital deformity of hindfoot Direct 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
    Correction of congenital deformity of midfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Soft tissue release for correction of congenital deformity of midfoot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity of forefoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Soft tissue release for clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital hallux valgus Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False Congenital anomaly Inferred relationship Some 1
    X-linked muscular dystrophy with limb girdle distribution Associated morphology False Congenital anomaly Inferred relationship Some 2
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intermediate X-linked muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Manifesting female carrier of X-linked muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ji muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary myopathy limited to females Associated morphology False Congenital anomaly Inferred relationship Some 2

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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