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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital 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
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Other specified pituitary dwarfism Occurrence False Congenital Inferred relationship Some
Other specified ostium secundum atrial septal defect Occurrence False Congenital Inferred relationship Some
Other anomalies of salivary glands or ducts Occurrence False Congenital Inferred relationship Some
Other specified stomach anomaly NOS Occurrence False Congenital Inferred relationship Some
Anomalies of upper alimentary tract NOS Occurrence False Congenital Inferred relationship Some
Congenital stenosis of small intestine NOS Occurrence False Congenital Inferred relationship Some
Intestinal fixation anomaly NOS Occurrence False Congenital Inferred relationship Some
Duplication of intestine NOS Occurrence False Congenital Inferred relationship Some
Other intestine anomalies NOS Occurrence False Congenital Inferred relationship Some
Other congenital anomaly of liver Occurrence False Congenital Inferred relationship Some
Other congenital anomaly of hepatic or bile ducts Occurrence False Congenital Inferred relationship Some
Congenital malposition of digestive system NOS Occurrence False Congenital Inferred relationship Some
Indeterminate sex NOS Occurrence False Congenital Inferred relationship Some
Pseudohermaphrodite NOS Occurrence False Congenital Inferred relationship Some
Other gastrointestinal tract congenital anomaly Occurrence False Congenital Inferred relationship Some
Gastrointestinal tract congenital anomalies NOS Occurrence False Congenital Inferred relationship Some
Genitourinary anomalies NOS Occurrence False Congenital Inferred relationship Some
Congenital macroglossia Occurrence False Congenital Inferred relationship Some
Congenital adhesions Occurrence False Congenital Inferred relationship Some
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Occurrence False Congenital Inferred relationship Some
Congenital anomaly of endocrine gonad (disorder) Occurrence False Congenital Inferred relationship Some
Ectopic gastric mucosa - multiple sites (disorder) Occurrence False Congenital Inferred relationship Some
Pancreas divisum - complete (disorder) Occurrence False Congenital Inferred relationship Some
Pancreas divisum - incomplete (disorder) Occurrence False Congenital Inferred relationship Some
Congenital obstructive megaureter (disorder) Occurrence False Congenital Inferred relationship Some
brevicollis congénital Occurrence False Congenital Inferred relationship Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Occurrence False Congenital Inferred relationship Some
Posterior embryotoxon (disorder) Occurrence False Congenital Inferred relationship Some
Choledochocele (disorder) Occurrence False Congenital Inferred relationship Some
Congenital choledochal cyst (disorder) Occurrence False Congenital Inferred relationship Some
Talipes (disorder) Occurrence False Congenital Inferred relationship Some
Cystic hygroma (disorder) Occurrence False Congenital Inferred relationship Some
dystrophie congénitale des aponévroses Occurrence False Congenital Inferred relationship Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Occurrence False Congenital Inferred relationship Some
Congenital fibrosis of inferior rectus muscle (disorder) Occurrence False Congenital Inferred relationship Some
Congenital/hereditary hypermelanotic disorder Occurrence False Congenital Inferred relationship Some
Developmental and/or congenital abnormality of nail Occurrence False Congenital Inferred relationship Some
Skin damage resulting from congenital/hereditary neuropathy Occurrence False Congenital Inferred relationship Some
poïkilodermie avec syndrome génétique ou congénital Occurrence False Congenital Inferred relationship Some 3
Genetic disorder of nail (disorder) Occurrence False Congenital Inferred relationship Some
Inherited deformity of nail (disorder) Occurrence False Congenital Inferred relationship Some
Hereditary lentiginosis Occurrence False Congenital Inferred relationship Some
Congenital/hereditary lentiginosis Occurrence False Congenital Inferred relationship Some
Congenital malformation of lymphatic vessel of skin (disorder) Occurrence False Congenital Inferred relationship Some
Cutaneous lymphangiectasia Occurrence False Congenital Inferred relationship Some
Lymphangiectasia with chylous reflux Occurrence False Congenital Inferred relationship Some
angiokératome congénital ou héréditaire Occurrence False Congenital Inferred relationship Some
Superficial onychomycosis Occurrence False Congenital Inferred relationship Some
Onycholysis due to fungal infection of nail (disorder) Occurrence False Congenital Inferred relationship Some
Idiopathic photo-onycholysis Occurrence False Congenital Inferred relationship Some
Polyonychia (disorder) Occurrence False Congenital Inferred relationship Some
Congenital onychodysplasia of index fingers (disorder) Occurrence False Congenital Inferred relationship Some
Congenital malalignment of multiple toenails (disorder) Occurrence False Congenital Inferred relationship Some
Congenital pterygium of nail (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital onychoatrophy (disorder) Occurrence False Congenital Inferred relationship Some
Traumatic onycholysis (disorder) Occurrence False Congenital Inferred relationship Some
Leukonychia secondary to systemic disease (disorder) Occurrence False Congenital Inferred relationship Some
Drug-induced onycholysis (disorder) Occurrence False Congenital Inferred relationship Some
Drug-induced leukonychia (disorder) Occurrence False Congenital Inferred relationship Some
Acquired striate leukonychia (disorder) Occurrence False Congenital Inferred relationship Some
Acquired koilonychia (disorder) Occurrence False Congenital Inferred relationship Some
Acquired pterygium of nail (disorder) Occurrence False Congenital Inferred relationship Some
lipoatrophie congénitale généralisée Occurrence False Congenital Inferred relationship Some
Generalized lentiginosis Occurrence False Congenital Inferred relationship Some
Nevoid lentiginosis (disorder) Occurrence False Congenital Inferred relationship Some
Zosteriform lentiginosis (disorder) Occurrence False Congenital Inferred relationship Some
Lymphangiomatosis (disorder) Occurrence False Congenital Inferred relationship Some
Segmental lymphangiomatosis (disorder) Occurrence False Congenital Inferred relationship Some
Hereditary sclerosing poikiloderma of Weary (disorder) Occurrence False Congenital Inferred relationship Some 3
Hereditary racquet nails (disorder) Occurrence False Congenital Inferred relationship Some
Midbrain corectopia (disorder) Occurrence False Congenital Inferred relationship Some
Irido-corneo-trabecular dysgenesis Occurrence False Congenital Inferred relationship Some
Suspected damage to fetus from disease in the mother Occurrence False Congenital Inferred relationship Some
Variant coronary origin from aortic sinus Occurrence False Congenital Inferred relationship Some
Variant coronary origin from left sinus Occurrence False Congenital Inferred relationship Some
Variant coronary origin from right sinus Occurrence False Congenital Inferred relationship Some
Anomalous origin of coronary artery from non-facing sinus (disorder) Occurrence False Congenital Inferred relationship Some
Anomalous origin of left anterior descending from right coronary artery Occurrence False Congenital Inferred relationship Some
Anomalous origin of coronary artery from pulmonary arterial tree Occurrence False Congenital Inferred relationship Some
Anomalous origin of coronary artery from right pulmonary artery Occurrence False Congenital Inferred relationship Some
Anomalous origin of coronary artery from left pulmonary artery Occurrence False Congenital Inferred relationship Some
Congenital labial adhesions Occurrence False Congenital Inferred relationship Some
[X]Townes-Brocks syndrome Occurrence False Congenital Inferred relationship Some
Infertility due to testicular hypoplasia (disorder) Occurrence False Congenital Inferred relationship Some
Fetus papyraceus Occurrence False Congenital Inferred relationship Some
Varix of umbilical vein (disorder) Occurrence False Congenital Inferred relationship Some
Bohn's nodule (disorder) Occurrence False Congenital Inferred relationship Some
Epstein's pearl of palate (disorder) Occurrence False Congenital Inferred relationship Some
Gingival cyst of neonate (disorder) Occurrence False Congenital Inferred relationship Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Occurrence False Congenital Inferred relationship Some
Congenital absence of heart structure (disorder) Occurrence False Congenital Inferred relationship Some
Mesonephric duct cyst of broad ligament Occurrence False Congenital Inferred relationship Some
Congenital failure of fusion between maxillary and mandibular processes (disorder) Occurrence False Congenital Inferred relationship Some
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Some
Meningomyelocele (disorder) Occurrence False Congenital Inferred relationship Some
Suspected damage to fetus from maternal alcohol addiction Occurrence False Congenital Inferred relationship Some
soupçon de lésion fœtale par irradiation Occurrence False Congenital Inferred relationship Some
Hepatomphalocele Occurrence False Congenital Inferred relationship Some
Suspected damage to fetus from maternal drug use Occurrence False Congenital Inferred relationship Some
Suspected damage to fetus from viral disease in mother Occurrence False Congenital Inferred relationship Some
Suspected damage to fetus from intrauterine contraceptive device Occurrence False Congenital Inferred relationship Some

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