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112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    642068012 Congenital malformation (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 malformation Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of genital organs Associated morphology False Congenital malformation Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital malformation Inferred relationship Some 2
    Bipartite ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 1
    Hypoplasia of genital organ NEC NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Associated morphology False Congenital malformation Inferred relationship Some 3
    Atresia of genital organ NEC Associated morphology False Congenital malformation Inferred relationship Some 1
    Reifenstein syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    [X]Other congenital lens malformations Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain in Rubinstein-Taybi syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Other congenital anomaly of clitoris Associated morphology False Congenital malformation Inferred relationship Some 1
    Mixed vascular malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Congenital malformation Inferred relationship Some 1
    Angiokeratoma circumscriptum Associated morphology False Congenital malformation Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of endocrine ovary (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Synophrys Associated morphology False Congenital malformation Inferred relationship Some 2
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology False Congenital malformation Inferred relationship Some 1
    Epicapsular star (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of the eyebrow Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital elongation of innominate artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False Congenital malformation Inferred relationship Some 1
    Posterior chamber vascular anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 2
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Double eyebrow Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation of anterior pituitary Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of the urinary system (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Flat palate Associated morphology False Congenital malformation Inferred relationship Some 1
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False Congenital malformation Inferred relationship Some 1
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Some 1
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital palato-oesophageal incoordination Associated morphology False Congenital malformation Inferred relationship Some 2
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Jarcho-Levin syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Exstrophy of urinary bladder sequence Associated morphology False Congenital malformation Inferred relationship Some
    Generalised essential telangiectasia Associated morphology False Congenital malformation Inferred relationship Some 2
    Hypogonadism with prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies Associated morphology False Congenital malformation Inferred relationship Some 2
    Perodactylia Associated morphology False Congenital malformation Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Vascular loops of inner ear Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain in proteus syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology False Congenital malformation Inferred relationship Some 1
    Vascular malformation of the nervous system Associated morphology False Congenital malformation Inferred relationship Some 1
    Indeterminate sex NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Van der Woude syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Other cervical, vaginal and external female genital anomaly NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Cavernous hemangioma Associated morphology False Congenital malformation Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies, unspecified Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of salivary glands and ducts (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False Congenital malformation Inferred relationship Some 1
    Other specified mouth and pharynx anomalies Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation due to inherited syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Atretocephalus Associated morphology False Congenital malformation Inferred relationship Some 1
    Female hypospadias (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Grafting of palate for cleft palate repair (procedure) Direct morphology False Congenital malformation Inferred relationship Some 2
    faux hermaphrodite Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other congenital malformations of renal artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False Congenital malformation Inferred relationship Some 1
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Shprintzen syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Hemicardia Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False Congenital malformation Inferred relationship Some 2
    Prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of endocrine testis (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation of the respiratory system Associated morphology False Congenital malformation Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent omphalomesenteric artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False Congenital malformation Inferred relationship Some 2
    Perodactylia of great toe Associated morphology False Congenital malformation Inferred relationship Some 1
    Incomplete ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 1
    Perineal hypospadias (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Some
    Indeterminate sex and pseudohermaphroditism Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital anterior capsular pigmentation Associated morphology False Congenital malformation Inferred relationship Some 2
    Penoscrotal hypospadias (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital pharyngeal polyp Associated morphology False Congenital malformation Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    hypospadias balanique Associated morphology False Congenital malformation Inferred relationship Some 2
    angiodysplasie ostéodystrophique Associated morphology False Congenital malformation Inferred relationship Some 2
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Synotus Associated morphology False Congenital malformation Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital malformation Inferred relationship Some 1
    Cleft tongue Associated morphology False Congenital malformation Inferred relationship Some 1
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Fetal malformation of central nervous system affecting obstetrical care Associated morphology False Congenital malformation Inferred relationship Some 1
    Lack of ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 1
    Agnathus Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital short hard palate Associated morphology False Congenital malformation Inferred relationship Some 2
    Pure gonadal dysgenesis Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital vascular malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of sternebra Associated morphology False Congenital malformation Inferred relationship Some 1
    Correction of congenital anorectal malformation Direct morphology False Congenital malformation Inferred relationship Some 1
    Hooded clitoris Associated morphology False Congenital malformation Inferred relationship Some 1
    Verrucous hemangioma of skin Associated morphology False Congenital malformation Inferred relationship Some 2
    Coffin-Siris syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Anomaly of artery NEC Associated morphology False Congenital malformation Inferred relationship Some 1

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    Reference Sets

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