FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
Short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Enlarged parietal foramina Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence False Congenital Inferred relationship Some 1
Scalp, ear, nipple syndrome Occurrence True Congenital Inferred relationship Some 3
Scalp, ear, nipple syndrome Occurrence True Congenital Inferred relationship Some 1
Scalp, ear, nipple syndrome Occurrence True Congenital Inferred relationship Some 2
Distal radioulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Cardiospondylocarpofacial syndrome Occurrence True Congenital Inferred relationship Some 2
Salla disease Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly with atrial septal defect Occurrence True Congenital Inferred relationship Some 1
Midline cleft of lower lip Occurrence True Congenital Inferred relationship Some 1
Persistent lanugo Occurrence True Congenital Inferred relationship Some 1
Verloes Bourguignon syndrome Occurrence True Congenital Inferred relationship Some 1
Verloes Bourguignon syndrome Occurrence False Congenital Inferred relationship Some 2
Verloes Bourguignon syndrome Occurrence False Congenital Inferred relationship Some 3
Median nasal dermoid fistula Occurrence True Congenital Inferred relationship Some 1
Intrauterine amputation of lower limb Occurrence True Congenital Inferred relationship Some 1
Hennekam syndrome Occurrence True Congenital Inferred relationship Some 1
Capillary fragility abnormality Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence True Congenital Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence True Congenital Inferred relationship Some 1
Syphilitic saddle nose Occurrence True Congenital Inferred relationship Some 1
Congenital nephrotic syndrome NOS Occurrence False Congenital Inferred relationship Some
Microhepatia Occurrence True Congenital Inferred relationship Some 1
Posterior lentiglobus Occurrence True Congenital Inferred relationship Some 1
Ichthyosis cheek eyebrow syndrome Occurrence True Congenital Inferred relationship Some 1
Earpit syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices Occurrence True Congenital Inferred relationship Some 1
Hooded clitoris Occurrence True Congenital Inferred relationship Some 1
Central polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Coloboma of eyelid Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata congenita Occurrence True Congenital Inferred relationship Some 1
Capillary malformation-arteriovenous malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital tracheocele Occurrence True Congenital Inferred relationship Some 2
Fordyce spots of buccal mucosa Occurrence False Congenital Inferred relationship Some 1
Osteodysplasia Occurrence False Congenital Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome Occurrence True Congenital Inferred relationship Some 1
Malattachment of atrial septum with posterior aspect of septum primum to left Occurrence True Congenital Inferred relationship Some 1
Sialic storage disease Occurrence True Congenital Inferred relationship Some 1
Manus vara Occurrence False Congenital Inferred relationship Some 2
Lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet Occurrence True Congenital Inferred relationship Some 1
Familial multiple fibrofolliculoma Occurrence False Congenital Inferred relationship Some 1
Lethal haemolytic anaemia and genital anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type Occurrence True Congenital Inferred relationship Some 1
Camptodactyly Occurrence True Congenital Inferred relationship Some 1
Bencze syndrome Occurrence True Congenital Inferred relationship Some 2
Bencze syndrome Occurrence True Congenital Inferred relationship Some 1
Odonto-onycho-dermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Cerebrofacial dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital gastrointestinal-urinary tract fistula Occurrence True Congenital Inferred relationship Some 1
Vertical alopecia Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence True Congenital Inferred relationship Some 1
Hyperplasia of pancreatic islet beta cell Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 4 Occurrence False Congenital Inferred relationship Some 1
8q22.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
8q22.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of left atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of knee with genu recurvatum Occurrence True Congenital Inferred relationship Some 1
Pseudohypoparathyroidism type I B Occurrence False Congenital Inferred relationship Some 1
Megalencephaly-capillary malformation syndrome Occurrence False Congenital Inferred relationship Some 2
Familial scaphocephaly syndrome McGillivray type Occurrence True Congenital Inferred relationship Some 1
Localised junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Female hypospadias Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia with intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Coronary sinus defect in left atrium Occurrence True Congenital Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome Occurrence True Congenital Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome Occurrence True Congenital Inferred relationship Some 2
Hydrorhachis Occurrence False Congenital Inferred relationship Some 1
Maleformatio ectodermalis generalisata of Bafverstedt Occurrence True Congenital Inferred relationship Some 1
Weissenbacher-Zweymuller syndrome Occurrence False Congenital Inferred relationship Some 2
Arteriovenous angioma Occurrence True Congenital Inferred relationship Some 1
Constriction ring syndrome of lower limb with amputation Occurrence True Congenital Inferred relationship Some 1
Multirooted tooth with convergent roots Occurrence False Congenital Inferred relationship Some 1
Late secondary abnormalities of the central nervous system Occurrence False Congenital Inferred relationship Some 1
Pierson syndrome Occurrence True Congenital Inferred relationship Some 1
Crowding of anterior maxillary teeth Occurrence False Congenital Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Occurrence True Congenital Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Occurrence True Congenital Inferred relationship Some 2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 3
Vesicular appendix of ovary Occurrence True Congenital Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence True Congenital Inferred relationship Some 2
Isolated anterior cervical hypertrichosis Occurrence True Congenital Inferred relationship Some 1
Pharyngeal pituitary tissue Occurrence True Congenital Inferred relationship Some 2
Palatal cyst of newborn Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of one hip with subluxation of other Occurrence False Congenital Inferred relationship Some 1
Progressive recessive dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
8q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
8q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Inherited epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 1
Cavernous lymphangioma of skin Occurrence True Congenital Inferred relationship Some 2
Ectopic bone and cartilage in lung Occurrence True Congenital Inferred relationship Some 1
Talo-patello-scaphoid osteolysis syndrome Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 10 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start