255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

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
Crossed renal ectopia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital short hard palate	Occurrence	False	Congenital	Inferred relationship	Some
Jugular lymphatic obstruction sequence	Occurrence	False	Congenital	Inferred relationship	Some
Cobalamin C disease	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pectus excavatum	Occurrence	False	Congenital	Inferred relationship	Some
Hydromyeli	Occurrence	False	Congenital	Inferred relationship	Some	4
Anomaly of chromosome pair 1	Occurrence	False	Congenital	Inferred relationship	Some
Tongue absent	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of epiglottis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital coxa vara	Occurrence	False	Congenital	Inferred relationship	Some
Persistent cloaca	Occurrence	False	Congenital	Inferred relationship	Some
Double outlet right ventricle	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of spine	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of inferior vena cava	Occurrence	False	Congenital	Inferred relationship	Some
Dyskeratosis congenita	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stricture of ureter	Occurrence	False	Congenital	Inferred relationship	Some
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital ectopic lens	Occurrence	False	Congenital	Inferred relationship	Some
Acquired traction diverticulum of oesophagus	Occurrence	False	Congenital	Inferred relationship	Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Occurrence	False	Congenital	Inferred relationship	Some
Endemic cretinism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of the spinal cord and brain	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary edema of legs	Occurrence	False	Congenital	Inferred relationship	Some
Pseudohermaphroditism	Occurrence	False	Congenital	Inferred relationship	Some
Persistent tuberculum impar	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of eustachian tube	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-C	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital diverticulum of left ventricle	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of ossicles of ear	Occurrence	False	Congenital	Inferred relationship	Some
Congenital keratoconus posticus circumscriptus	Occurrence	False	Congenital	Inferred relationship	Some
Symphalangy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of external auditory canal	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of mitral valve	Occurrence	False	Congenital	Inferred relationship	Some
Transient neonatal hypertyrosinemia	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of coronary artery	Occurrence	False	Congenital	Inferred relationship	Some
umbilikalhernie uden obstruktion OG uden gangræn	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of nipple	Occurrence	False	Congenital	Inferred relationship	Some
Amyotrophia congenita	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of chest wall	Occurrence	False	Congenital	Inferred relationship	Some
hamartomatøs lidelse	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	Occurrence	True	Congenital	Inferred relationship	Some	1
Omphalopagus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anoperineal fistula	Occurrence	False	Congenital	Inferred relationship	Some
Familial renal iminoglycinuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Benign autosomal dominant osteopetrose	Occurrence	False	Congenital	Inferred relationship	Some
Lingual goiter	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of testis	Occurrence	False	Congenital	Inferred relationship	Some
Classical phenylketonuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Pleonotia	Occurrence	False	Congenital	Inferred relationship	Some
14q partial trisomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa, albopapular type	Occurrence	False	Congenital	Inferred relationship	Some
Brachymegalodactyly	Occurrence	False	Congenital	Inferred relationship	Some
19q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of face	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of ossicles of ear	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of anus	Occurrence	False	Congenital	Inferred relationship	Some
Brachymetacarpia	Occurrence	False	Congenital	Inferred relationship	Some
Sotos' syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Johanson-Blizzard syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Double urinary meatus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Platyspondylia	Occurrence	False	Congenital	Inferred relationship	Some
Agenesis of right lung	Occurrence	False	Congenital	Inferred relationship	Some
Symmetrical conjoined twins	Occurrence	False	Congenital	Inferred relationship	Some
Septo-optic dysplasia sequence (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Incomplete bilateral cleft palate with cleft lip	Occurrence	False	Congenital	Inferred relationship	Some
Pulmonary valve anomaly	Occurrence	False	Congenital	Inferred relationship	Some
glutaraciduri, type 1	Occurrence	False	Congenital	Inferred relationship	Some
Flyveøre	Occurrence	False	Congenital	Inferred relationship	Some
Chronic granulomatous disease, type IVA	Occurrence	False	Congenital	Inferred relationship	Some
Bicuspid cardiac valve	Occurrence	False	Congenital	Inferred relationship	Some
Rudimentary tracheal bronchus	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit lumbosakral stenose	Occurrence	False	Congenital	Inferred relationship	Some
6q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
kongenit delvist manglende arm OG underarm	Occurrence	False	Congenital	Inferred relationship	Some	4
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Occurrence	False	Congenital	Inferred relationship	Some
Cystis pilonidalis uden absces	Occurrence	False	Congenital	Inferred relationship	Some
Hyperphosphatasia-osteoectasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital subcapsular cataract	Occurrence	False	Congenital	Inferred relationship	Some
Mottling of enamel	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of fibula	Occurrence	False	Congenital	Inferred relationship	Some
Complete aphalangia of upper limb	Occurrence	False	Congenital	Inferred relationship	Some
Angelman syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Junctional epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges.	Occurrence	False	Congenital	Inferred relationship	Some	5
kongenit multipel artrogrypose	Occurrence	False	Congenital	Inferred relationship	Some
X-linked lymphoproliferative syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
DiGeorges syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Occurrence	False	Congenital	Inferred relationship	Some
Thoracopagus epigastricus	Occurrence	False	Congenital	Inferred relationship	Some
Spina bifida of lumbar region	Occurrence	False	Congenital	Inferred relationship	Some	5
Complete trisomy 16 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
kongenit manglende hoved og rygmarv	Occurrence	False	Congenital	Inferred relationship	Some
Velamentous insertion of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Omphaloangiopagus	Occurrence	False	Congenital	Inferred relationship	Some
Chronic granulomatous disease, type II	Occurrence	False	Congenital	Inferred relationship	Some
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.	Occurrence	False	Congenital	Inferred relationship	Some
Marfanoid mentalt retarderingsyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of lysine AND/OR hydroxylysine metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Occurrence	False	Congenital	Inferred relationship	Some

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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)