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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
    Pili annulati Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus bilocularis Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of cleft hand Direct morphology False kongenit anomali Inferred relationship Some 1
    Goltz' syndrom Associated morphology False kongenit anomali Inferred relationship Some 2
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital pes planus Associated morphology False kongenit anomali Inferred relationship Some 1
    Metatarsus adductus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital dislocation of glenohumeral joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Imperfect fusion of skull Associated morphology False kongenit anomali Inferred relationship Some 1
    A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Associated morphology False kongenit anomali Inferred relationship Some
    Mutilating keratoderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Townes syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Potter's facies Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False kongenit anomali Inferred relationship Some 1
    lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Associated morphology False kongenit anomali Inferred relationship Some 3
    Sammenvoksning af calcaneus Associated morphology False kongenit anomali Inferred relationship Some 1
    longitudinel ameli af phalanges i fod Associated morphology False kongenit anomali Inferred relationship Some 2
    longitudinel ameli af phalanges i fod Associated morphology False kongenit anomali Inferred relationship Some 3
    Uterus parvicollis Associated morphology False kongenit anomali Inferred relationship Some 2
    HSMN IV Associated morphology False kongenit anomali Inferred relationship Some 1
    Primordial cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group C Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of macrodactyly Direct morphology False kongenit anomali Inferred relationship Some 1
    Senter syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Uterus incudiformis Associated morphology False kongenit anomali Inferred relationship Some 4
    Robinson nail dystrophy-deafness syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutis marmorata Associated morphology False kongenit anomali Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa with absence of skin Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Congenital deformity of hip joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of hepatic duct without obstruction Associated morphology False kongenit anomali Inferred relationship Some 2
    Acquired epidermolysis bullosa Associated morphology False kongenit anomali Inferred relationship Some 2
    Pyloric atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital deformity of ankle joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Mesenteric cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Inherited arthrogryposis Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of coronary artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratosis palmaris et plantaris Associated morphology False kongenit anomali Inferred relationship Some
    Trigonocephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Camptodactyly Associated morphology False kongenit anomali Inferred relationship Some 2
    Glycogen storage disease, type VI Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniolacunia Associated morphology False kongenit anomali Inferred relationship Some 1
    Notomelus (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Pemberton osteotomy operation of ilium Direct morphology False kongenit anomali Inferred relationship Some 1
    Longitudinal deficiency of tarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital adhesions of peritoneum Associated morphology False kongenit anomali Inferred relationship Some 1
    Paraumbilical hernia Associated morphology False kongenit anomali Inferred relationship Some 3
    Mibellis porokeratose, dissemineret superficiel type Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of bile duct Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital choledochal cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Bicornuate uterus Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital anomaly of lower alimentary tract Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital fiber type disproportion myopathy Associated morphology False kongenit anomali Inferred relationship Some
    Floppy infant syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Talipes equinovarus Associated morphology False kongenit anomali Inferred relationship Some 3
    Anorectal anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Radioulnar synostosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Marshall syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Adult junktional bulløs epidermolyse Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coxa valga Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of hand (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Dimelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Zebra body myopathy Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit anomali i øvre fordøjelseskanal Associated morphology False kongenit anomali Inferred relationship Some 1
    Lamelløs iktyose OG invagineret trikoreksi-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Hanhart's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Nager syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal communication between pericardial sac and pleura Associated morphology False kongenit anomali Inferred relationship Some 4
    Infantile uterus Associated morphology False kongenit anomali Inferred relationship Some 1
    Nevus comedonicus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nail Associated morphology False kongenit anomali Inferred relationship Some 1
    Fibrous skin tumor of tuberous sclerosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of bile duct with cholecystitis Associated morphology False kongenit anomali Inferred relationship Some 1
    Transverse deficiency of lower limb Associated morphology False kongenit anomali Inferred relationship Some 3
    Letal glossofaryngal defekt Associated morphology False kongenit anomali Inferred relationship Some 1
    Hepatomphalocele Associated morphology False kongenit anomali Inferred relationship Some 5
    Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital uterine anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Periodontal cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Functional asplenia Associated morphology False kongenit anomali Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital anomaly of ovary Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus arcuatus Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital anomaly of appendix Associated morphology False kongenit anomali Inferred relationship Some 1
    Scapulopexy Direct morphology False kongenit anomali Inferred relationship Some 3
    Tricho-dento-osseous syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Brachyphalangia Associated morphology False kongenit anomali Inferred relationship Some 2
    Ukompliceret bulløs epidermolyse af hænder og fødder Associated morphology False kongenit anomali Inferred relationship Some 1
    Subungual fibroma Associated morphology False kongenit anomali Inferred relationship Some
    Redundant prepuce Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital depression in skull Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. Associated morphology False kongenit anomali Inferred relationship Some 1
    Makrocolon Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Mietens syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Annular pancreas Associated morphology False kongenit anomali Inferred relationship Some 1

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    REFERS TO concept association reference set

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