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
Anden specificeret pituitær dværgvækst	Occurrence	False	Congenital	Inferred relationship	Some
Anden specificeret atrieseptumdefekt af typen ostium secundum	Occurrence	False	Congenital	Inferred relationship	Some
Andre kongenitte anomalier af spytkirtler og udførselsgange	Occurrence	False	Congenital	Inferred relationship	Some
anden specificeret anomali af mavesækken, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Anomalier af øvre fordøjelseskanal, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
kongenit tyndtarmsstenose, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
intestinal tilhæftningsanomali, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
duplikation af tarm, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
andre tarmanomalier, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
anden kongenit leveranomali	Occurrence	False	Congenital	Inferred relationship	Some
anden kongenit lever- eller galdegangsanomali	Occurrence	False	Congenital	Inferred relationship	Some
kongenit malposition i fordøjelsessystemet, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Ubestemmeligt køn, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Pseudohermafrodit, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
anden kongenit anomali i mave-tarm-kanalen	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte anomalier i mave-tarm-kanalen, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Urogenitale anomalier, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Congenital macroglossia	Occurrence	False	Congenital	Inferred relationship	Some
Kongenitte adhærencer	Occurrence	False	Congenital	Inferred relationship	Some
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ectopic gastric mucosa - multiple sites (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pancreas divisum - complete (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pancreas divisum - incomplete (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital obstructive megaureter (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dystrophia brevicollis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs.	Occurrence	False	Congenital	Inferred relationship	Some
Posterior embryotoxon (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Choledochocele (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital choledochal cyst (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Talipes (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cystic hygroma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit facial dystrofi	Occurrence	False	Congenital	Inferred relationship	Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fibrosis of inferior rectus muscle (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit/hereditær hypermelanotisk sygdom	Occurrence	False	Congenital	Inferred relationship	Some
udviklingsrelateret og/eller kongenit abnormitet af negl	Occurrence	False	Congenital	Inferred relationship	Some
hudbeskadigelse som følge af kongenit/hereditær neuropati	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit/genetisk syndrom med poikiloderma	Occurrence	False	Congenital	Inferred relationship	Some	3
Genetic disorder of nail (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Inherited deformity of nail (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditær lentiginose	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit/hereditær lentiginose	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation of lymphatic vessel of skin (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
kutan lymfangiektasi	Occurrence	False	Congenital	Inferred relationship	Some
lymfangiektasi med kyløst refluks	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit/hereditær angiokeratom	Occurrence	False	Congenital	Inferred relationship	Some
Superficial onychomycosis	Occurrence	False	Congenital	Inferred relationship	Some
Onycholysis due to fungal infection of nail (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Idiopatisk foto-onykolyse	Occurrence	False	Congenital	Inferred relationship	Some
Polyonychia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malalignment of multiple toenails (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pterygium of nail (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital onychoatrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Traumatic onycholysis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Leukonychia secondary to systemic disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Drug-induced onycholysis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Drug-induced leukonychia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acquired striate leukonychia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acquired koilonychia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acquired pterygium of nail (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit total lipoatrofi	Occurrence	False	Congenital	Inferred relationship	Some
generaliseret lentiginose	Occurrence	False	Congenital	Inferred relationship	Some
Nevoid lentiginosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Zosteriform lentiginosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Lymphangiomatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Segmental lymphangiomatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary sclerosing poikiloderma of Weary (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hereditary racquet nails (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Midbrain corectopia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Irido-corneo-trabecular dysgenesis	Occurrence	False	Congenital	Inferred relationship	Some
Mistanke om fosterskade pga. maternel sygdom	Occurrence	False	Congenital	Inferred relationship	Some
Variant coronary origin from aortic sinus	Occurrence	False	Congenital	Inferred relationship	Some
Variant koronar afgang fra venstre sinus	Occurrence	False	Congenital	Inferred relationship	Some
Variant koronar afgang fra højre sinus	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of coronary artery from non-facing sinus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of left anterior descending from right coronary artery	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of coronary artery from pulmonary arterial tree (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of coronary artery from right pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of coronary artery from left pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte labiale adhærencer	Occurrence	False	Congenital	Inferred relationship	Some
[X]Townes-Brocks syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Infertility due to testicular hypoplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
foetus compressus	Occurrence	False	Congenital	Inferred relationship	Some
Varix of umbilical vein (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Bohn's nodule (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epstein's pearl of palate (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Gingival cyst of neonate (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
De Sanctis-Cacchiones syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of heart structure (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
ductus mesonephricus-cyste på ligamentum latum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital failure of fusion between maxillary and mandibular processes (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Torakalt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some
Meningomyelocele (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mistanke om fosterskade på grund af maternel alkoholafhængighed	Occurrence	False	Congenital	Inferred relationship	Some
Mistanke om fosterskade pga. bestråling	Occurrence	False	Congenital	Inferred relationship	Some
Hepatomphalocele	Occurrence	False	Congenital	Inferred relationship	Some
Mistanke om fosterskade pga. præparat anvendt af moder	Occurrence	False	Congenital	Inferred relationship	Some
Mistanke om fosterskade forårsaget af viral maternel sygdom	Occurrence	False	Congenital	Inferred relationship	Some
mistanke om fosterskade pga. IUD	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)