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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 false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    13q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Shwachman syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Turner syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cyst of mediastinum Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Bonnevie-Ullrich syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of peripheral nerve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aortic tunnel Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other intestine anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cryptotia (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pelvic osteotomy for congenital deformity of hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Shelf procedure for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Medullary cystic disease, otherwise specified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Down's syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of lower limb (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Edward's syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Excision of anlage of fibula Direct morphology False anomalie congénitale Inferred relationship Some 2
    Patau's syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Turner's phenotype - ring chromosome karyotype Associated morphology False anomalie congénitale Inferred relationship Some
    Excision of anlage of tibia Direct morphology False anomalie congénitale Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Renal pelvis and ureter obstructive defects Associated morphology False anomalie congénitale Inferred relationship Some 1
    Prominent valve of inferior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other pharynx anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified anomalies of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Preauricular fistula Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fibrolipoma of filum terminale Associated morphology False anomalie congénitale Inferred relationship Some 1
    Discordant ventriculoarterial connection Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomalies of intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Talipes calcaneovarus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Trisomy 13, meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some
    Pancreas divisum - complete (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some
    Hypoplasia of cardiac vein Associated morphology False anomalie congénitale Inferred relationship Some 2
    Trisomy 21- meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some
    Correction of congenital deformity of hip NOS Direct morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of pancreas NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified anomalies of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Aortic root congenital abnormality Associated morphology False anomalie congénitale Inferred relationship Some 1
    10p partial monosomy syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False anomalie congénitale Inferred relationship Some
    8q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Persistent cerebral embryonic artery Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of aortic arch Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ash leaf spot, tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of fallopian tubes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital vascular disorder (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Turner's phenotype, other variant karyotypes Associated morphology False anomalie congénitale Inferred relationship Some
    Cobb's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of skeletal muscle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pleuropericardial cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical thymic remnant Associated morphology False anomalie congénitale Inferred relationship Some 2
    Kommerell's diverticulum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital pancreatic trypsin deficiency Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Café-au-lait spots and ring chromosome 11 Associated morphology False anomalie congénitale Inferred relationship Some
    Primary seborrhea Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomalies of upper alimentary tract NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    9p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Other specified correction of congenital deformity of hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    Localized abdominal wall skin atrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spinal dysgenesis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    1q partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some
    Pancreas divisum Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pulmonary artery anomaly, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of blood vessel of upper limb (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Exstrophy of cloaca sequence Associated morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity of hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    13q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Mosaicism 45, X; 46, XX Associated morphology False anomalie congénitale Inferred relationship Some
    Double outlet left ventricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified upper alimentary tract anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pancreas divisum - incomplete (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ovarian dwarfism NEC Associated morphology False anomalie congénitale Inferred relationship Some
    Dextrotransposition of aorta (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Associated morphology False anomalie congénitale Inferred relationship Some
    Complete trisomy 21 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Preauricular sinus and fistula Associated morphology False anomalie congénitale Inferred relationship Some 3
    11q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Obstructive defect of renal pelvis or ureter NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Associated morphology False anomalie congénitale Inferred relationship Some
    Turner's syndrome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    10q partial monosomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False anomalie congénitale Inferred relationship Some
    Unspecified anomaly of heart valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False anomalie congénitale Inferred relationship Some
    dysgénésie de la queue de cheval Associated morphology False anomalie congénitale Inferred relationship Some 2
    Preauricular sinus, pit or fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 2
    Cyclops hypognathus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Epstein's pearl of palate (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Opocephalus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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