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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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