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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

    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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Muscle transfer for claw toe repair Direct morphology False Congenital anomaly Inferred relationship Some 3
    Disorder of central nervous system due to xeroderma pigmentosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cutaneous angiomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Perinatal jaundice due to inspissated bile syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of common bile duct with chronic cholecystitis without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital scar Associated morphology False Congenital anomaly Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of cervix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diplopodia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pectus excavatum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital coxa vara Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent cloaca (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dyskeratosis congenita Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nemaline myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary edema of legs Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudohermaphroditism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Umbilical hernia without obstruction AND without gangrene Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital deformity of chest wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anoperineal fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Benign autosomal dominant osteopetrosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa, albopapular type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Johanson-Blizzard syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Rudimentary tracheal bronchus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital lumbosacral stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duchenne muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Junctional epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some
    Oculopharyngeal muscular dystrophy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Reduction deformity of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Paraspadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Non-neurologic xeroderma pigmentosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Stickler syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of muscle AND/OR tendon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbosacral prespondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial benign pemphigus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital displacement of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital duplication of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hepatic fibrosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital junctional epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mirror hands Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mibelli Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bicornuatus vetularum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital spondylolysis of lumbosacral region Associated morphology False Congenital anomaly Inferred relationship Some 3
    Omphalomesenteric duct cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct with acute cholecystitis with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 3
    Diffuse palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of abdominal wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hemimelia of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Opitz-Frias syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hydrocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Embryonic cyst of Gartner's duct Associated morphology False Congenital anomaly Inferred relationship Some 4
    Segmental uterine aplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Astragaloscaphoid synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of prostate Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of macrodactyly of finger Direct morphology False Congenital anomaly Inferred relationship Some 1
    Saethre-Chotzen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal dermatoglyphic pattern Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spermatic cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mixed gonadal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital microgastria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of skeletal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital melanocytic nevus Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital volvulus of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of fallopian tubes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Splayleg in piglets Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bicameratus vetularum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microhepatia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital diverticulum of colon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thoracic cage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of rectum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acquired equinovarus deformity Associated morphology False Congenital anomaly Inferred relationship Some 4
    Female pseudohermaphroditism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cranial osteoporosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. Associated morphology False Congenital anomaly Inferred relationship Some
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cervix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, variant form Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of breast Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital web of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct with acute cholecystitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital displacement of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete aphalangia of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False Congenital anomaly Inferred relationship Some 2
    Persistent human tail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of skeletal muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mibelli, linear unilateral type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Generalized epidermolysis bullosa simplex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital diverticulum of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1

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