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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Absence of fingerprints with congenital milia syndrome Occurrence True Congenital Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Genochondromatosis Occurrence True Congenital Inferred relationship Some 1
Preductal aortic stenosis Occurrence True Congenital Inferred relationship Some 1
Overriding aorta Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus with obesity and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital splenorenal shunt Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve Occurrence False Congenital Inferred relationship Some 1
Mammary digital nail syndrome Occurrence True Congenital Inferred relationship Some 3
Mammary digital nail syndrome Occurrence True Congenital Inferred relationship Some 2
Mammary digital nail syndrome Occurrence True Congenital Inferred relationship Some 1
Pulmonary tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Combined valvular-subvalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal dysplasia type III Occurrence True Congenital Inferred relationship Some 1
Thoracoceloschisis Occurrence True Congenital Inferred relationship Some 3
Double inlet to ventricle of indeterminate morphology Occurrence True Congenital Inferred relationship Some 1
Congenital genu valgum Occurrence True Congenital Inferred relationship Some 1
Progressive non-infectious anterior vertebral fusion Occurrence True Congenital Inferred relationship Some 1
Lissencephaly with cerebellar hypoplasia type D Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism, type 1 Occurrence True Congenital Inferred relationship Some 1
Alveolar capillary dysplasia with pulmonary venous misalignment Occurrence True Congenital Inferred relationship Some 1
Duplex kidney with reflux in one ureter Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metatarsal bone Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Occurrence True Congenital Inferred relationship Some 1
Multicentric osteolysis nodulosis arthropathy spectrum Occurrence True Congenital Inferred relationship Some 2
Multicentric osteolysis nodulosis arthropathy spectrum Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of mandible Occurrence True Congenital Inferred relationship Some 1
Chiari malformation type III Occurrence True Congenital Inferred relationship Some 1
Displaced Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction Occurrence False Congenital Inferred relationship Some 1
Sacral spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Cole-Carpenter dysplasia Occurrence False Congenital Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type Occurrence True Congenital Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type Occurrence True Congenital Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type Occurrence True Congenital Inferred relationship Some 2
Craniometaphyseal dysplasia - mild type Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - mild type Occurrence True Congenital Inferred relationship Some 2
Peutz-Jeghers polyps of small bowel Occurrence True Congenital Inferred relationship Some 1
Congenital urethral syringocele Occurrence True Congenital Inferred relationship Some 1
Giant oesophagus Occurrence True Congenital Inferred relationship Some 1
3C syndrome Occurrence True Congenital Inferred relationship Some 1
3C syndrome Occurrence True Congenital Inferred relationship Some 2
3C syndrome Occurrence True Congenital Inferred relationship Some 3
Walker-Warburg congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 1 Occurrence False Congenital Inferred relationship Some 1
Cryptotia Occurrence True Congenital Inferred relationship Some 1
Koolen De Vries syndrome Occurrence True Congenital Inferred relationship Some 1
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 2
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 1
Langer-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal retarded ossification syndromes Occurrence True Congenital Inferred relationship Some 1
Choanal atresia with CHARGE association Occurrence False Congenital Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Occurrence True Congenital Inferred relationship Some 3
Lack of ossification of tympanic anulus Occurrence True Congenital Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Constriction ring of upper limb with acrosyndactyly and amputation Occurrence True Congenital Inferred relationship Some 1
Say Field Coldwell syndrome Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion Occurrence True Congenital Inferred relationship Some 1
Congenital fistula of rectum and anus Occurrence True Congenital Inferred relationship Some 1
Congenital faecal fistula Occurrence True Congenital Inferred relationship Some 1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some 1
Dystrophic epidermolysis bullosa inverse type Occurrence True Congenital Inferred relationship Some 1
Saethre-Chotzen syndrome Occurrence True Congenital Inferred relationship Some 2
Arterial dissection and lentiginosis syndrome Occurrence True Congenital Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Occurrence True Congenital Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Occurrence True Congenital Inferred relationship Some 1
Thymic, renal, anal, lung dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital myopathy Paradas type Occurrence True Congenital Inferred relationship Some 1
Postductal coarctation of aorta Occurrence True Congenital Inferred relationship Some 1
Hydrolethalus syndrome Occurrence False Congenital Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
MORM syndrome Occurrence True Congenital Inferred relationship Some 1
Infundibular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability Stevenson type Occurrence True Congenital Inferred relationship Some 1
Schinzel-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
Charlie M syndrome Occurrence True Congenital Inferred relationship Some 1
Charlie M syndrome Occurrence True Congenital Inferred relationship Some 2
Charlie M syndrome Occurrence True Congenital Inferred relationship Some 3
Kohlschutter's syndrome Occurrence True Congenital Inferred relationship Some 3
Kohlschutter's syndrome Occurrence True Congenital Inferred relationship Some 2
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Junctional epidermolysis bullosa mitis Occurrence True Congenital Inferred relationship Some 1
Frank-Ter Haar syndrome Occurrence True Congenital Inferred relationship Some 1
Frank-Ter Haar syndrome Occurrence True Congenital Inferred relationship Some 2
Cervical thymic remnant Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism, type 2 Occurrence False Congenital Inferred relationship Some 1
Manus flexa Occurrence False Congenital Inferred relationship Some 2
Duplex kidney with reflux in both ureters Occurrence True Congenital Inferred relationship Some 1
Dolichocephalic dwarfism Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect: atrial and ventricular components Occurrence True Congenital Inferred relationship Some 1
Lethal faciocardiomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
Lethal faciocardiomelic dysplasia Occurrence True Congenital Inferred relationship Some 2
Metaphyseal chondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Marie Unna syndrome Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of maxilla Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Missouri type Occurrence True Congenital Inferred relationship Some 1
Congenital anosmia Occurrence True Congenital Inferred relationship Some 1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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