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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    13q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Shwachman syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Turner syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cyst of mediastinum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of pancreas Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Bonnevie-Ullrich syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of peripheral nerve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aortic tunnel Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other intestine anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cryptotia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pelvic osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Shelf procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Medullary cystic disease, otherwise specified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Down's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Correction of congenital deformity of lower limb Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Edward's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Excision of anlage of fibula Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Patau's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Turner's phenotype - ring chromosome karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Excision of anlage of tibia Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Renal pelvis and ureter obstructive defects Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Prominent valve of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other pharynx anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Fibrolipoma of filum terminale Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Discordant ventriculoarterial connection Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomalies of intestine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Talipes calcaneovarus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Trisomy 13, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Pancreas divisum - complete Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Hypoplasia of cardiac vein Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 21- meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Correction of congenital deformity of hip NOS Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of pancreas NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified anomalies of pancreas Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Aortic root congenital abnormality Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    10p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    8q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Persistent cerebral embryonic artery Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of aortic arch Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of fallopian tubes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital vascular disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype, other variant karyotypes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Cobb's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of skeletal muscle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pleuropericardial cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervical thymic remnant Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Kommerell's diverticulum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital pancreatic trypsin deficiency Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete trisomy 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Café-au-lait spots and ring chromosome 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Primary seborrhea Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomalies of upper alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    9p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Localized abdominal wall skin atrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    1q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Pancreas divisum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Pulmonary artery anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hereditary endothelial dystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of blood vessel of upper limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Exstrophy of cloaca sequence Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    13q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Mosaicism 45, X; 46, XX Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Double outlet left ventricle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified upper alimentary tract anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pancreas divisum - incomplete Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ovarian dwarfism NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Dextrotransposition of aorta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ring chromosome 11 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Complete trisomy 21 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Preauricular sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    11q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Obstructive defect of renal pelvis or ureter NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ring chromosome 1 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Turner's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    10q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Unspecified anomaly of heart valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital malformation of pancreas Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Defective development of the cauda equina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cyclops hypognathus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Epstein's pearl of palate Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Opocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2

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    This concept is not in any reference sets

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