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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

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
Flexural Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some
Hypertrophic Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some
Linear/nevoid/zosteriform Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some
Acral Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some
Palmar pitting due to Darier disease Occurrence False Congenital Inferred relationship Some
Nail dystrophy due to Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some
Nail dystrophy due to benign familial pemphigus (disorder) Occurrence False Congenital Inferred relationship Some
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Occurrence False Congenital Inferred relationship Some
Keratoderma with deafness Occurrence False Congenital Inferred relationship Some
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal dominant familial woolly hair Occurrence False Congenital Inferred relationship Some
Autosomal recessive familial woolly hair Occurrence False Congenital Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence False Congenital Inferred relationship Some
Genetic abnormality of hair shaft Occurrence False Congenital Inferred relationship Some
Atrichia congenita (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hypertrichosis lanuginosa (disorder) Occurrence False Congenital Inferred relationship Some
Pachyonychia congenita type II of Jackson-Lawler (disorder) Occurrence False Congenital Inferred relationship Some
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Occurrence False Congenital Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Occurrence False Congenital Inferred relationship Some
Ziprkowski-Margolis syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Phylloid hypomelanosis (disorder) Occurrence False Congenital Inferred relationship Some
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) Occurrence False Congenital Inferred relationship Some
Dystrophic epidermolysis bullosa inverse type (disorder) Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa pruriginosa (disorder) Occurrence False Congenital Inferred relationship Some
Localized congenital cutis laxa (disorder) Occurrence False Congenital Inferred relationship Some
Cutis laxa secondary to inherited disorder of connective tissue (disorder) Occurrence False Congenital Inferred relationship Some
Axillary freckling due to neurofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Multiple café-au-lait macules due to neurofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Multiple neurofibromas in neurofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Plexiform neurofibroma (disorder) Occurrence False Congenital Inferred relationship Some
Elephantiasis neurofibromatosa (disorder) Occurrence False Congenital Inferred relationship Some
Café-au-lait macules with pulmonary stenosis (disorder) Occurrence False Congenital Inferred relationship Some
Café-au-lait macules with temporal dysrhythmia (disorder) Occurrence False Congenital Inferred relationship Some
Familial multiple café-au-lait macules without neurofibromatosis Occurrence False Congenital Inferred relationship Some
Periungual fibroma in tuberous sclerosis (disorder) Occurrence False Congenital Inferred relationship Some
Inherited disorder of porphyrin metabolism (disorder) Occurrence False Congenital Inferred relationship Some
X-linked hyper-IgM syndrome Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive hyperimmunoglobulin M syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Congenital anomaly of digit (disorder) Occurrence False Congenital Inferred relationship Some
Port-wine stain in proteus syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Angiomatous nevus with complication Occurrence False Congenital Inferred relationship Some
Ulcerated angiomatous nevus (disorder) Occurrence False Congenital Inferred relationship Some
Angiomatous nevus impairing vision (disorder) Occurrence False Congenital Inferred relationship Some
Familial sea-blue histiocytosis Occurrence False Congenital Inferred relationship Some 3
Central serous retinopathy with pit of optic disc Occurrence False Congenital Inferred relationship Some
Deficiency of malonyl-coenzyme A decarboxylase (disorder) Occurrence False Congenital Inferred relationship Some 1
Deficiency of enoyl-coenzyme A hydratase (disorder) Occurrence True Congenital Inferred relationship Some 1
Freemartin Occurrence False Congenital Inferred relationship Some
Reverse position of adjacent teeth (disorder) Occurrence False Congenital Inferred relationship Some
Displacement of tooth (disorder) Occurrence False Congenital Inferred relationship Some
Intermediate maple syrup urine disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Intermittent maple syrup urine disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Fistula of coronary sinus (disorder) Occurrence False Congenital Inferred relationship Some
Equine polysaccharide storage myopathy Occurrence False Congenital Inferred relationship Some
Klinefelter's syndrome, XXY (disorder) Occurrence False Congenital Inferred relationship Some
Klinefelter's syndrome Occurrence False Congenital Inferred relationship Some
Epispadias (disorder) Occurrence False Congenital Inferred relationship Some
Male epispadias (disorder) Occurrence False Congenital Inferred relationship Some
Rod monochromatism Occurrence False Congenital Inferred relationship Some
Congenital elliptocytosis Occurrence False Congenital Inferred relationship Some
Hyperplasia of islet alpha cells with gastrin excess Occurrence False Congenital Inferred relationship Some
Congenital adrenogenital syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of tongue, salivary gland AND/OR pharynx Occurrence False Congenital Inferred relationship Some
Congenital vaginal enterocele Occurrence False Congenital Inferred relationship Some
Neuromuscular scoliosis Occurrence False Congenital Inferred relationship Some
Congenital lamellar cataract Occurrence False Congenital Inferred relationship Some
Coloboma of lens Occurrence False Congenital Inferred relationship Some
Congenital blue dot cataract Occurrence False Congenital Inferred relationship Some
Congenital membranous cataract Occurrence False Congenital Inferred relationship Some
Cornea plana Occurrence False Congenital Inferred relationship Some
Abnormal blue sclerae Occurrence False Congenital Inferred relationship Some
Ostium secundum type atrial septal defect Occurrence False Congenital Inferred relationship Some
Patent foramen ovale Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of esophagus Occurrence False Congenital Inferred relationship Some
Congenital absence of duodenum Occurrence False Congenital Inferred relationship Some
Congenital absence of jejunum Occurrence False Congenital Inferred relationship Some
Congenital absence of ileum Occurrence False Congenital Inferred relationship Some
Congenital jejunal stenosis Occurrence False Congenital Inferred relationship Some
Congenital ileal stenosis Occurrence False Congenital Inferred relationship Some
Imperforate jejunum Occurrence False Congenital Inferred relationship Some
Anal atresia Occurrence False Congenital Inferred relationship Some
Congenital atresia of appendix Occurrence False Congenital Inferred relationship Some
Congenital stricture of anus Occurrence False Congenital Inferred relationship Some
Imperforate anus Occurrence False Congenital Inferred relationship Some
Congenital aganglionic megacolon Occurrence False Congenital Inferred relationship Some
Long segment Hirschsprung's disease Occurrence False Congenital Inferred relationship Some
Short segment Hirschsprung's disease Occurrence False Congenital Inferred relationship Some
Total intestinal aganglionosis Occurrence False Congenital Inferred relationship Some
Transposition of caecum Occurrence False Congenital Inferred relationship Some
Megaloduodenum Occurrence False Congenital Inferred relationship Some
Congenital absence of hepatic ducts Occurrence False Congenital Inferred relationship Some
Atresia of hepatic ducts Occurrence False Congenital Inferred relationship Some
Congenital atrophy of left lobe of liver Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of bile duct Occurrence False Congenital Inferred relationship Some
Congenital pancreatic cyst Occurrence False Congenital Inferred relationship Some
Congenital malformation of genital organs Occurrence False Congenital Inferred relationship Some
Macrodactyly of toes - simple Occurrence False Congenital Inferred relationship Some
Macrodactyly of toes - fatty nerve tumor Occurrence False Congenital Inferred relationship Some
Congenital staphylococcal pneumonia Occurrence False Congenital Inferred relationship Some
Congenital group A haemolytic streptococcal pneumonia Occurrence False Congenital Inferred relationship Some

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